StemCell Therapy

Overview of Genetics and Epigenetics

Genetics refers to the study of genes, which make up our genetic material (DNA). Each gene is a set of instructions (code) to make a protein that performs specific functions in the body. Changes to a genes code are called mutations. Mutations can prevent a protein from functioning correctly, thus causing a genetic disorder or medical condition.

Although every cell has a complete set of genes, only some genes are used, or expressed. Genes can be switched on or off, causing one cell to be a brain cell and another to be a bone cell. In cells, the DNA is wound around histones, and together, the DNA and histones are called chromatin. Chemical groups on the DNA and histones are called chromatin marks. Chromatin marks switch genes on and off. Some chromatin marks switch genes off by tightening the DNA around histones; other chromatin marks switch genes on by loosening it. These changes are epigenetic as opposed to genetic because the DNA code is not changed. Epigenetic changes can cause medical conditions by changing how genes are used and whether they are turned on or off correctly.

Two types of epigenetic disorders are imprinting disorders and Mendelian disorders of the epigenetic machinery (MDEMs). Imprinting disorders result directly from disrupted epigenetic or chromatin marks. An example of an imprinting disorder is Beckwith-Wiedemann syndrome. This is different from genetic mutations (described above) that cause medical conditions by changing the DNA code. Sometimes, genetic mutations can indirectly disrupt epigenetic or chromatin marks if the mutations affect genes that determine these marks. These genes are called epigenetic machinery genes, and mutations in these genes cause MDEMs. Examples of MDEMs are Kabuki syndrome and Sotos syndrome. Experts in our multidisciplinary Epigenetics and Chromatin Clinic help diagnose and develop treatment plans for people with both types of epigenetic disorders.

An Analogy for Genetics and Epigenetics

A helpful comparison is to think of the DNA sequence as the letters that form words in a book. The book represents the genome (all the DNA). Each word in the book represents a gene. Some epigenetic marks highlight words that should be read (the genes that should be turned on) at a given time. Other epigenetic marks strike through words that should not be read (genes that should be turned off) at a given time. Abnormal epigenetic marks are like highlighting or striking through the wrong word(s). Genetic mutations are like misspellings of a word. In all cases, the meaning of the words in the book is altered. This has negative consequences in the form of medical conditions. The medical conditions can be divided into two groups. The first group results from abnormal epigenetic marks (highlighting or striking through the wrong words). The second group results from mutations in the DNA code (misspelling a word).

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet. 2019 Nov 21;28(R2):R254-R264. doi: 10.1093/hmg/ddz174. PMID: 31595951; PMCID: PMC6872430. DOI: 10.1093/hmg/ddz174

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annu Rev Genomics Hum Genet. 2014;15:269-93. PMID: 25184531; PMCID: PMC4406255. 10.1146/annurev-genom-090613-094245

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About Epigenetics | Johns Hopkins Institute of Genetic Medicine

Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, Muller-Nurasyid M, Moes A, Meitinger T, Mak A, Huikuri H, Junttila MJ, Goyette P, Pulit SL, Pazoki R, Tanck MW, Blom MT, Zhao X, Havulinna AS, Jabbari R, Glinge C, Tragante V, Escher SA, Chakravarti A, Ehret G, Coresh J, Li M, Prineas RJ, Franco OH, Kwok PY, Lumley T, Dumas F, McKnight B, Rotter JI, Lemaitre RN, Heckbert SR, O'Donnell CJ, Hwang SJ, Tardif JC, VanDenburgh M, Uitterlinden AG, Hofman A, Stricker BHC, de Bakker PIW, Franks PW, Jansson JH, Asselbergs FW, Halushka MK, Maleszewski JJ, Tfelt-Hansen J, Engstrom T, Salomaa V, Virmani R, Kolodgie F, Wilde AAM, Tan HL, Bezzina CR, Eijgelsheim M, Rioux JD, Jouven X, Kaab S, Psaty BM, Siscovick DS, Arking DE, Sotoodehnia N; SCD working group of the CHARGE Consortium. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018 Aug 28. doi: 10.1093/eurheartj/ehy474. PMID:30169657. *Arking DE co-senior author.

van Setten J, Brody JA, Jamshidi Y, Swenson BR, Butler AM, Campbell H, Del Greco FM, Evans DS, Gibson Q, Gudbjartsson DF, Kerr KF, Krijthe BP, Lyytikainen LP, Muller C, Muller-Nurasyid M, Nolte IM, Padmanabhan S, Ritchie MD, Robino A, Smith AV, Steri M, Tanaka T, Teumer A, Trompet S, Ulivi S, Verweij N, Yin X, Arnar DO, Asselbergs FW, Bader JS, Barnard J, Bis J, Blankenberg S, Boerwinkle E, Bradford Y, Buckley BM, Chung MK, Crawford D, den Hoed M, Denny JC, Dominiczak AF, Ehret GB, Eijgelsheim M, Ellinor PT, Felix SB, Franco OH, Franke L, Harris TB, Holm H, Ilaria G, Iorio A, Kahonen M, Kolcic I, Kors JA, Lakatta EG, Launer LJ, Lin H, Lin HJ, Loos RJF, Lubitz SA, Macfarlane PW, Magnani JW, Leach IM, Meitinger T, Mitchell BD, Munzel T, Papanicolaou GJ, Peters A, Pfeufer A, Pramstaller PP, Raitakari OT, Rotter JI, Rudan I, Samani NJ, Schlessinger D, Silva Aldana CT, Sinner MF, Smith JD, Snieder H, Soliman EZ, Spector TD, Stott DJ, Strauch K, Tarasov KV, Thorsteinsdottir U, Uitterlinden AG, Van Wagoner DR, Volker U, Volzke H, Waldenberger M, Jan Westra H, Wild PS, Zeller T, Alonso A, Avery CL, Bandinelli S, Benjamin EJ, Cucca F, Dorr M, Ferrucci L, Gasparini P, Gudnason V, Hayward C, Heckbert SR, Hicks AA, Jukema JW, Kaab S, Lehtimaki T, Liu Y, Munroe PB, Parsa A, Polasek O, Psaty BM, Roden DM, Schnabel RB, Sinagra G, Stefansson K, Stricker BH, van der Harst P, van Duijn CM, Wilson JF, Gharib SA, de Bakker PIW, Isaacs A, Arking DE, Sotoodehnia N. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.Nat Commun. 2018 Jul 25;9(1):2904. doi: 10.1038/s41467-018-04766-9. PMID:30046033 *Arking DE co-senior author.

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Dan Arking , PhD - Hopkins Medicine

Genetic medicine can leave people with rare mutations behind. But there's new hope  Albuquerque Journal

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Genetic medicine can leave people with rare mutations behind. But there's new hope - Albuquerque Journal

Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers  Frontiers

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Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers - Frontiers

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis  Nature

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An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis - Nature

The CRISPR companies are not OK  STAT

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The CRISPR companies are not OK - STAT

All too often, when we see injustices, both great and small, we think, that's terrible, but we do nothing. We say nothing. We let other people fight their own battles. We remain silent because silence is easier. Qui tacet consentire videtur is Latin for 'Silence gives consent.' When we say nothing, when we do nothing, we are consenting to these trespasses against us.

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Department of Genetic Medicine

The human genome contains about 20,000 protein coding genes distributed over 23 pairs of chromosomes (22 pairs of autosomes and the sex chromosomes, X and Y). Our genes provide the code of life..a blueprint for the processes that program every aspect of an individuals development from a single fertilized egg at the initiation of life to the trillions of cells that make up an adult.

Our genes also encode the mechanisms that maintain normal physiology in an ever-changing environment. The information within genes is determined by the linear sequence of four building blocks, G, A, T and C, which are called nucleotides. These components are arranged in long chain-like molecules that intertwine, forming a double helix that is about two meters in length. All of this is packaged into the nucleus of each of our cells, themselves thousands of times smaller than a raindrop.

Our genetic machinery is the product of more than a billion years of evolution. Understanding this marvelous feat of biology and how it functions in health and disease is a central goal for scientists in the Department of Genetic Medicineand requires a multi-faceted research program.

Johns Hopkins scientists have long been leaders in medical genetics research. The field essentially began in the 1950s with renowned scientist Victor McKusick, who is considered the father of medical genetics and led the world in identifying thousands of inherited diseases and mapping the responsible genes to specific locations on our chromosomes. Legendary geneticist Barton Childs is best known for his quest to get physicians to think about disease in the context of genetics. Nobel laureates Daniel Nathans and Hamilton Smith discovered molecular scissors called restriction enzymes, which revolutionized genetic research by providing a way to map our genome and isolate genetic material and insert it into DNA. These techniques, used continuously by laboratories across the world since Nathan and Smiths discoveries in the 1960s enabled molecular biology and was a precursor is to sequencing the human genome and to the recently identified, targeted gene-cutting tool, CRISPR/CAS9.

More on the history of the Departmentof Genetic Medicine

With innovations in genome sequencing over the last two decades, scientists have become very efficient at reading genetic material. Now, researchers are focusing on clinical applications of these advances including interpreting our genetic blueprints, relating these coded instructions to human disease and developing new ways to identify, treat and prevent disease.

The overarching goal of the Department of Genetic Medicineis to integrate genetics into all of medicine. In addition to genetic medicinescientists who study the fundamental links between our genes and disease, the Departmenthas a robust clinical service which operates seven patient clinics along with providing inpatient and outpatient services.

Thus, the Department of Genetic Medicineprovides a highly collaborative, innovative environment where scientists and physicians combine their knowledge to apply basic science discoveries to clinical care.

Facultyfocus on areas that include:

At the Departmentof Genetic Medicine, we take the power of research discoveries at Johns Hopkins and apply this knowledge to patients evaluated in our inpatient and outpatient clinics at The Johns Hopkins Hospital and its affiliates. As part of this effort, we haveexpandedthe size and scope of the services offered by Johns Hopkins Genomics, (JHG) one of the worlds largest centers for DNA genotyping and sequencing. JHG is a collaborative effort between the Departments of Genetic Medicineand Pathology to provide a variety of DNA genotyping and sequencing services, both research and clinical, to the patients, physicians and scientists of Johns Hopkins Medicine.

The Department of Genetic Medicinealso houses research centers with significant funding from the National Institutes of Health that provide services and resources for physicians and researchers at Johns Hopkins and around the world.

Thus, Department of Genetic Medicineresearchers and clinicians, work to move human genetics and its multi-faceted and expanding applications to medicine forward by providing a collaborative and dynamic culture of innovative research and clinical care.

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Research Services | Johns Hopkins Institute of Genetic Medicine

More than 2,000 people of all ages from across the globe seek information, diagnoses and ongoing care from experts at the McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine. The departmentis a hub of genetics knowledge and care that has moved medicine forward to bring decades of research advances to benefit human health. This is where the field of medical genetics was born and developed.

Johns Hopkins genetics experts are leaders and pioneers in their fields. They use the worlds most advanced technology, some of which was developed by our own scientific teams, to diagnose genetic conditions.

Our clinical team includes physicians, genetic counselors, dieticians, nurses, nurse practitioners and physician assistants who coordinate to develop accurate and timely diagnoses.

Our clinics specialize in unraveling the signs and symptoms of conditions to hone in on a diagnosis, whether the condition is extremely rare or more common. Your team is made up of the worlds experts in deciphering these clues to conditions and in managing your care.

Whether you are a newborn or in your retirement years, experts at our clinics will follow your care for life. Your lifelong link to experts at Johns Hopkins will help you stay informed on the latest advances in care for your condition. We also coordinate care with the Kennedy Krieger Institute, other medical centers and your local health care providers.

Our team will help you navigate the complex medical care that people with genetic conditions may need. We will make referrals and help to arrange appointments with specialists who have extensive knowledge and experience in treatments for people with genetic diseases. We work to get insurance coverage for genetic testing as well as additional needs, such as physical and speech therapy, and equipment, such as wheelchair and communication devices. We also help parents of students with genetic diseases work witheducators to meet their childs medical and learning needs.

Visit our COVID-19 resources page for information about what you can do to stay healthy.

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Patient Care | Johns Hopkins Department of Genetic Medicine

Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.

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Specialty Clinics | Johns Hopkins Institute of Genetic Medicine

Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.

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Pediatric Genetic Medicine at Johns Hopkins Children's Center

The Department of Genetic Medicine maintains several large centers funded in part by the National Institutes of Health. These research resources have a long history at Johns Hopkins and provide the foundation for innovative research, as well as providing services and information to scientists around the world.

OMIM, is an encyclopedia of genetic disorders, their clinical features and the genes that contribute to them. The database contains information on thousands ofMendelian conditions, disorders caused by errors in a single gene. The database was developed 55years ago by Victor McKusick and is now maintained byAda Hamosh, MD, MPH, and her team. OMIM is used by 2.7 million unique users per year around the world.

GRCFprovides year-roundresearch expertise, products, and services for the study of the human genome. At the leading edge of technology, the GRCF provides sophisticated tools and equipment oftentimes not available in individual research labs. The mission of the GRCF is to provide high quality, cost effective research services and products to investigators throughout the Johns Hopkins scientific community. Accordingly, GRCF services cover a broad segment of genetic research including:

JHG provides research and clinical genotyping and sequencing together with extensive analytic expertise. A partnership between the Departments of Genetic Medicineand Pathology, JHG opened its doors in 2017, co-localizing four existing labs:

CIDR,is a national resource, offering sequencing, genotyping and epigenetic services to scientists looking to discover genes and variants that contribute to human disease. As part of Johns Hopkins Genomics, CIDR researchers focus on the genetic architecture of complex traits, looking at conditions that result from many genetic variants and how these variants accumulate to manifest disease. This includes conditions such as all types of cancer risk, eye diseases, cleft lip and palate, oral health, environmental influences on child health outcomes, ADHD, structural brain disorders, obesity, alcoholism and aging. Most recent studies are focused on minority populations or extremely well-phenotyped populations. CIDR facilitates data cleaning and data sharing. The 140 CIDR studies posted in dbGaP are heavily utilized with > 7,600 data requests. Since opening its doors in 1996, CIDR has been continuously funded by contracts from a consortium of ten National Institutes of Health institutes (the CIDR Program) as well as through funding from many other genomic consortia, including most recently the national precision medicine initiative, the All of Us Research Program. As of January 2024, CIDR has completed 1,508 studies, consisting of > 1.7 million DNA samples and encompassing over 200 different phenotypes for 421 principal investigators world-wide.

BHCMGaccepts samples from thousands of peoplewith rare disorders submitted by a worldwide network of rare-disease experts. A collaboration between Baylor College of Medicine and Johns Hopkins, the goal of the center is to sequence the genomes of people with these conditions as well as appropriate family members to identify the genes and variants responsible for disorders whose molecular basis was previously unknown. In particular, the center seeks families with known or novel conditions for which the culprit gene is unknown. Successful identification of the responsible gene connects a particular gene with a particular set of clinical features, thereby enabling precise molecular diagnosis and prognosis.It alsoinforms research on the development of rational treatment and providing families with information about recurrence risk.

Focused on Kabuki syndrome and related Mendelian disorders of the epigenetic machinery. These rare disorders result from mutations in single genes encoding components of the systems that add, interpret or delete epigenetic marks with the result that sets of genes are mis-regulated. Currently we know of more than 40 such epigenetic disorders, most of which have intellectual disability and growth abnormalities as prominent clinical consequences. By understanding the features and pathogenesis of these precise abnormalities of the epigenetic system IGM investigators expect to understand not only each disorder but also to how the whole epigenetic systems functions and the pathophysiological consequences that accrue when the system malfunctions. This research complements the clinical services offered in the IGM Epigenetics and Chromatin Clinic where patients with these disorders are diagnosed, characterized and treated.

Focused on understanding the molecular pathophysiology of the vascular form of Ehlers-Danlos syndrome (vascular EDS) with the aim of providing informed management of these patients as well as developing new forms of therapy. The Center will utilize advanced genetic and molecular methods to discover the sequence of events that contribute to structural weakening of the arterial wall and internal tissues over time, ultimately leading to tear or rupture and the potential for early death. The research team has developed two mouse models of vascular EDS that demonstrate most of the important physical findings seen in patients with the disorder. As in people with vascular EDS, we observe tremendous variation in the timing of onset and severity of vascular disease in our mouse colonies. Our strong belief is that both genetic and environmental factors have the capacity to afford strong protection in vascular EDS. Once identified, we will attempt to mimic the mechanism of protection using medications or other strategies. The Center also aims to coordinate expert clinical care of individuals with vascular EDS, and to promote research in the clinical sciences that will improve both the length and quality of life for affected individuals. The Center for Vascular Ehlers-Danlos Syndrome Research has received generous and visionary funding from a variety of sources including the EDS Network CARES Foundation, the EDS Today Advocates, the DEFY Foundation, the Aldredge Family Foundation, and the Daskal Family Foundation.

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Research Centers | Johns Hopkins Institute of Genetic Medicine

The overall goal of the Department of Genetic Medicine is to integrate genetics into all of medicine. To this end, department of genetic medicine investigators are exploring the role of the genes and genetic variation in the generation of human phenotypes and using this knowledge in various ways to understand biology and to improve health.

The Department of Genetic Medicineclinical service is aimed at providing state-of-the-art care for our patients, as well as contributing to translational, patient-oriented research; providing a set of educational activities for our trainees; and importantly, serving as an exemplar of how genetics informs the care of individual patients. We recognize that for these activities to be successful we also must be active in the education of our students, our colleagues and the public at large.

The Department of Genetic Medicine has a committee on diversity, equity and inclusion. The committee's mission is to promote the personal and professional flourishing of individuals from all backgrounds, perspectives, and abilities. We seek to promote mutual respect and collaboration between individuals of diverse race, ethnicity, culture, physical characteristics, sex and gender identity, religion and nationality.

For Department members: read more on our Sharepoint Intranet site about committee members, events and initiatives.

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About Us - Johns Hopkins Medicine

Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.

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Graduate Programs & Training | Johns Hopkins Medicine

To request an appointment in any of our genetics clinics, please call410-955-3071.

If this is your first visit to a genetics clinic at Johns Hopkins, the following steps will help you navigate making an appointment. From start to finish, scheduling an appointment may take up to 10 days, depending on the speed of insurance clearance, receiving records, and other factors.

Call our central appointment line at 410-955-3071. Our staff in the genetics office will walk you through the steps to making an appointment. They will collect general and insurance information about the patient and will send you a medical history questionnaire.

Complete one of the following medical history questionnaires, and fax the completed questionnaire to 410-367-3231.

Your primary care physician can help you complete the questionnaire. Genetic counselors review the questionnaire to determine each persons medical urgency and the appropriate medical providers to schedule the appointment. People with medical urgency who should receive appointments sooner than the general population of our patients include infants under six months of age, children whose physicians diagnosed them as failure to thrive or children who have lost developmental milestones.Generally, our next available appointments are four to six months from the time you first call our appointment line.

Our financial specialists will review your insurance information to confirm that it is active and will cover a visit with a medical geneticist, genetic counselor, dieticianand nurse. They will also help obtain referralsand will determine eligibility and coverage for genetic testing. You can help make this process faster by asking your primary care provider to fax a referral and records to 410-367-3231.

After your questionnaire and insurance status have been reviewed, our scheduling staff will contact you to schedule the first available appointment.

Questions about the status of your appointment?Call the main appointment line at 410-955-3071, Option 1

If you have been seen at one of our genetics clinics within three years, call 410-955-3071, option 2, to schedule your follow-up appointment.

If three or more years have passed since your last appointment at one of our genetics clinics, please follow the instructions for new patients.You will not need to submit a new medical questionnaire. The genetic counselors will review your genetic medical record.

Book follow-up visits early!Available appointments fill quickly, so dont delay in scheduling your next visit.

Johns Hopkins Medicine International pairs you with a medical concierge to arrange all aspects of your medical visit, paying special attention to your personal, cultural and travel-related needs. Your medical concierge can arrange consultations and treatment plans with the most appropriate specialists. Johns Hopkins Medicine International also provides language interpretation, financial counseling, assistance with travel arrangements and anything else to help make Johns Hopkins feel as close to home as possible.

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Request an Appointment | Johns Hopkins Institute of Genetic Medicine

Research sheds new light on the behavior of KRAS gene in pancreatic and colorectal cancer  News-Medical.Net

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Research sheds new light on the behavior of KRAS gene in pancreatic and colorectal cancer - News-Medical.Net

Clemson professor Trudy Mackay elected to the National Academy of Medicine  Clemson News

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Clemson professor Trudy Mackay elected to the National Academy of Medicine - Clemson News

Tailored Genetic Medicine: AAV Gene Therapy and mRNA Vaccines Redefine Healthcare's Future  Intelligent Living

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Tailored Genetic Medicine: AAV Gene Therapy and mRNA Vaccines Redefine Healthcare's Future - Intelligent Living

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon  Nature.com

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon - Nature.com

If you have family members with Parkinsons disease, or if you yourself have the disease and are concerned about your childrens chances of developing it, youve probably already wondered: Is there a gene that causes Parkinsons disease? How direct is the link?

About 15 percent of people with Parkinsons disease have a family history of the condition, and family-linked cases can result from genetic mutations in a group of genes LRRK2, PARK2, PARK7, PINK1 or the SNCA gene (see below). However, the interaction between genetic changes, or mutations, and an individuals risk of developing the disease is not fully understood, says Ted Dawson, M.D., Ph.D., director of the Institute for Cell Engineering at Johns Hopkins.

Heres what you need to know:

Theres a long list of genes known to contribute to Parkinsons, and there may be many more yet to be discovered. Here are some of the main players:

SNCA: SNCA makes the protein alpha-synuclein. In brain cells of individuals with Parkinsons disease, this protein gathers in clumps called Lewy bodies. Mutations in the SNCA gene occur in early-onset Parkinsons disease.

PARK2: The PARK2 gene makes the protein parkin, which normally helps cells break down and recycle proteins.

PARK7: Mutations in this gene cause a rare form of early-onset Parkinsons disease. The PARK7 gene makes the protein DJ-1, which protects against mitochondrial stress.

PINK1: The protein made by PINK1 is a protein kinase that protects mitochondria (structures inside cells) from stress. PINK1 mutations occur in early-onset Parkinsons disease.

LRRK2: The protein made by LRRK2 is also a protein kinase. Mutations in the LRRK2 gene have been linked to late-onset Parkinsons disease.

Among inherited cases of Parkinsons, the inheritance patterns differ depending on the genes involved. If the LRRK2 or SNCA genes are involved, Parkinsons is likely inherited from just one parent. Thats called an autosomal dominant pattern, which is when you only need one copy of a gene to be altered for the disorder to happen.

If the PARK2, PARK7 or PINK1 gene is involved, its typically in an autosomal recessive pattern, which is when you need two copies of the gene altered for the disorder to happen. That means that two copies of the gene in each cell have been altered. Both parents passed on the altered gene but may not have had any signs of Parkinsons disease themselves.

Our major effort now is understanding how mutations in these genes cause Parkinsons disease, says Dawson. SNCA, the gene responsible for making the protein that clumps in the brain and triggers symptoms, is particularly interesting.

Our research is trying to understand how alpha-synuclein works, how it travels through the brain, says Dawson. The latest theory is that it transfers from cell to cell, and our work supports that idea. Weve identified a protein that lets clumps of alpha-synuclein into cells, and we hope a therapy can be developed that interferes with that process.

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The Genetic Link to Parkinson's Disease - Hopkins Medicine