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Genetics Testing And Research
Although there may be no direct benefit to you at the present time, the results of genetic testing can help further Parkinsons research by allowing scientists to better understand the disease and consequently develop new treatments. For example, a mutation in the gene that codes for the protein alpha-synuclein leads to a specific type of familial Parkinsons disease. Although this mutation only accounts for a small percentage of cases, knowledge of this mutation has had broader effects. The study of this genetic mutation led to the discovery that alpha-synuclein clumps together to form Lewy bodies which have been consistently found in the brains of all individuals with Parkinsons disease not just those with the SNCA mutation. Thus, one gene mutation has led to a critical finding in the field of Parkinsons research.
Genetics testing is a very personal decision but a cautionary note: anytime that genetic testing is considered, particularly in a disease condition where there is no change in treatment based on genetic findings, it would be my recommendation to see a genetics counselor to discuss the impact this information will have on you the patient and your family.
When Should Genetic Testing Be Done
Your physician may suggest it if your Parkinsons diagnosis comes at a young age , if multiple relatives in your family history have also been diagnosed with the same, or if you are at high risk for familial Parkinsons based on your ethnicity .
However, what is the benefit of having the testing done at the present time? The information may be important for family planning for some individuals although as I said even if the gene is passed on it does not necessarily equal development of the disease. The risk, though, is higher in dominant genetic mutations versus recessive ones, on average if a person has a first-degree relative with Parkinsons their risk of developing the disease is 4 to 9 percent more than the general population.
Keep in mind that currently for the person being tested, there is no change in the treatment of their Parkinsons disease based on genetic findings. In the future, however, when there are treatments to slow down the onset of the disease or to prevent it from developing at all, then the identification of those people at risk will be very important.
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How Is Parkinsons Disease Treated
Treatment can be tailored by knowing which genes are playing a role in the disease. People with a variant in LRRK2 tend to respond favorably to medication called Levodopa Jump to reference section: . But further research is required to understand what causes Parkinsonâs disease. Once we have this information, better drugs can be developed to cure the disorder. However, due to our limited knowledge of Parkinsonâs, drugs for the disease currently target specific symptoms, rather than the cause.
Faqs: Genetics & Parkinsons
If I have Parkinson’s disease will my child get it too? Will I inherit Parkinson’s if my parent or grandparent has it?
Most people with Parkinson’s have no known genetic link. Their children will likely never develop Parkinson’s. There are some known genetic variations that increase the risk of getting Parkinson’s, but most people with these variations do not get Parkinson’s. Like many other diseases, Parkinson’s is a result of a complex interaction between genes and environmental factors.
In a small number of people , Parkinson’s is inherited and can affect multiple family members. Their children may have a higher risk of developing Parkinson’s. However, there is no guarantee they will develop PD.
What if my genetic test is positive for a Parkinson’s gene?
Scientists have identified several genetic mutations that can increase the risk of developing Parkinson’s. If someone tests positive for a mutation in a Parkinson’s gene, it does not necessarily mean they will develop PD. Some people who have mutations in the genes associated with Parkinson’s never develop PD. A person may inherit a hereditary genetic mutation that increases their risk for Parkinson’s however, they may also inherit other genes, be exposed to environmental factors or have lifestyle choices that offset the risk. Genetic testing is currently available for the following genes related to Parkinson’s: GBA, PARK7, SNCA, LRRK2, parkin and PINK1.
What can I do with my genetic test results?
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Access To Genetic Counseling
Most respondents reported having access to services of agenetic counselor within their institution or in their movement disorderspractice. Only 8 had utilized genetic counseling via telephone ortelemedicine. Most reported that they would either involve a genetic counseloror recommend a genetic counseling referral prior to genetic testing forPD. The rest would either counsel by themselves or not offer genetictesting .
Previously Reported Genetic Risk Variants Of Pd
In our cohort, 25 sporadic cases were identified with previously published genetic risk variants in PD genes . This rate is approximately two times higher in familiar cases , where 15 patients carried risk variants. In this Hungarian population, heterozygous GBA mutations, such as H294Q, E365K, T408M, N409S, and L483P variants, were identified in 10 patients and four controls . The detected H294Q, L483P, and N409S GBA variants were published as pathogenic in biallelic form in GD. The T408M variant based on ClinVar is considered as benign, the E365K as VUS in GD however, previous studies identified both of them as genetic risk variants for PD . Moreover, one patient carried two previously published genetic PD risk variants in GBA gene. Among the GBA carriers, some patients had distinctive clinical features, such as supranuclear vertical gaze palsy , nonmedication associated hallucinations , depression and anxiety , and early cognitive dysfunction in two patients .
Table 3 Previously described genetic risk factors associated with PD.
Among all the detected, previously published genetic risk variants, all of it are associated with an OR > 1 in our cohort however, we could only confirm two risk variants , to be significantly more frequent in cases, compared to controls.
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What Is The Lrrk2 Gene
The PARK8 area of the genome houses the LRRK2 gene, whichis the most common gene behind late-onset Parkinsonâs disease Jump to reference section: . There have been more than 100 genetic changes in LRRK2 found in families with Parkinsonâs disease, although only a handful have been shown to lead to the condition Jump to reference section: .
Changes in LRRK2 are associated with autosomal dominant inheritance, meaning that inheriting one genetic variant in LRRK2 can be sufficient to cause the disease. People who have inherited the variant have a higher risk of developing the condition than someone without the variant. The general population has a 1-2% risk of developing Parkinsonâs disease compared to the 30% chance for people who have a LRRK2 variant. This also means that 70% of people with the variant will not develop the disease . Many families with LRRK2 variants have Ashkenazi Jewish or North African Arab Berbers ancestry Jump to reference section: . However, itâs important to remember that while inheriting the variant increases the chance of developing Parkinsonâs disease, it is not a diagnosis of the condition.
The Decision To Seek Genetic Testing Is A Personal One
Learning you carry a gene mutation that raises disease risk can be concerning for you and your family. The decision to seek genetic testing or to participate in genetic research deserves extra attention. A genetic counselor is trained to talk with you and help you gain a fuller understanding of what your results might mean for you and your family.
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Single Heterozygous Mutations In Ar
In one sporadic case, pathogenic R275W heterozygous mutation was identified in PRKN gene, and in three sporadic cases, possible damaging substitution were identified in autosomal recessively inherited genes, such as DNAJC6 , CP , and PLA2G6 . Notably, AOO is comparably high as it was seen in case where previously described genetic risk factors were solely presented .
Some Patients May Not Be Eligible To Take Part In The Free Genetic Testing Program
To speed up recruitment for a natural history program we are first focusing on patients who have a higher likelihood of testing positive for the mutated gene from the free genetic testing program. If a patient does not meet the criteria now, we will offer to contact them again should we open up the screening program to a wider population of Parkinsonâs patients.
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Genetics Testing In Parkinson’s Disease
Genetic testing in Parkinson’s disease can play an important role in diagnosing the illness. Scientists hope that the knowledge provided by genetics will ultimately help slow or stop its progression.
Genes are carried in our DNA, units of inheritance that determine the traits that are passed down from parent to child. We inherit about 3 billion pairs of genes from our mothers and fathers. They determine the color of our eyes, how tall we may be and, in some instances, the risk we have in developing certain diseases.
As a physician, I know the role that genetics plays in determining our health. The degree of influence that our genes have varies depending on the disease, but both environmental factors and genetics contribute to the development of illness to some extent.
Genes Linked To Parkinsons Disease
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 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.
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Dna Health Tests Can Save You Hundreds
With a DNA test for health, you get more than just an in-depth look at your genetic health profile compared to a general ancestry test. Testing to see if you are a carrier for any potential disease or condition, or getting a full-range allergy test at a doctors office can cost you upwards of $1,000 or more.
A DNA health test can give you an inside look at your genetics from the comfort of your own home, for less than a third of the price you would pay to have tests done at the doctors office.
Who Should Consider A Genetic Test For Parkinsons
There are two groups of people who might consider getting genetic testing and we will discuss each group separately.
Genetic testing for PD is a common request and a number of commercial labs perform panels of genetic testing for PD. You may ask: How can I test myself for Parksinons? Whether youre considering getting a genetic test through your doctor, or performing one at home, its important to note that at-home test dont map the entire gene for mutations. Genetic testing through your doctor will test for GBA, PARK7, SNCA, LRRK2, parkin and PINK1.
Both groups are faced with two questions: Should I get genetic testing? And if so, what should I do with the results? Before we address these two questions, we need to learn more about the complexity of genetic testing in PD.
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Genetics Of Parkinson’s Disease Risk
Risk for Parkinson’s disease is influenced by genetics. In fact, the disease is associated with genetic variants in many genes. Two of the best studied genes associated with Parkinson’s disease are called LRRK2 and GBA. There are other genesand variants that have also been linked to Parkinson’s disease, but most of these genetic variants are either rare or have only a smalleffect on risk.
People Who Already Have Pd: Should I Get Tested And What Do I Do With The Results
Up until recently, even people with PD with a very extensive family history of PD would not necessarily receive genetic testing because there were no clear uses for the results. There has been research directed at figuring out whether PD caused by or associated with certain mutations have particular clinical characteristics . However, there remains so much variability in clinical characteristics even among people with the same PD mutation, that there are still no clear practical implications in knowing whether a PD patient harbors a particular mutation. There is also, so far, no difference in treatment or management of PD whether or not the patient harbors one of the known mutations. That may change however, with the advent of clinical trials that target particular mutations.
There are two genes that have received particular attention recently because medications are being developed that target those with mutations of these genes.
GBAis a gene that increases the risk of developing PD. The gene encodes for the GBA enzyme, a protein used by the body to break down cellular products. Having two abnormal GBA genes causes Gauchers disease, which is characterized by the buildup of these cellular products resulting in fatigue, bone pain, easy bleeding and an enlarged spleen and liver. When a person inherits only one abnormal gene, he or she does not develop Gauchers disease, but does incur a small increased risk of PD. Most people with one mutated GBA gene do not develop PD.
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Research Into Genes And Parkinsons
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.
Targeting Parkinsons-Linked Protein Could Neutralize 2 of the Diseases Causes
Researchers report they have discovered how two problem proteins known to cause Parkinsons disease are chemically linked, suggesting that someday, both could be neutralized by a single drug designed to target the link.
New Dna Diagnostics For Parkinson’s Disease
14 December 2014
Research at UCL into the genetic causes ofParkinson’s disease led to the development of a new genetic test, now availableto patients and their families.It also provided insights into patterns of Parkinson’s disease in particularethnic groups and generated industry research leading to new drug candidates.
Approximately 200,000 people in the UK suffer from Parkinson’s disease , a neurodegenerative condition affectingmultiple areas of the brain. The lifetime risk of developing PD in the UK is now4%, making it the second most common neurodegenerative disease in the country.
Huge improvements over the last 15 years in the understandingof PD have been driven largely by findings in genetics research. In 2004,researchers led by Professor Nicholas Wood were anintegral part of the group that first described mutations in the gene LRRK2. Thisrepresented a significant shift in understanding of a condition that had, formany years, had been taught to medical students as the prime example of anon-genetic disease. Furthermore, the team’s discovery in 2005 of the so-calledcommon mutation in this gene showed for the first time that arelatively rare genetic variant could not only cause familial PD, but couldalso play a significant role in sporadic PD.
The test gives patients a precise diagnosis, andunderstanding of the risk of disease to relatives. Prenatal testing is also apossibility. To a lesser degree, an understanding of the mutation may help theprognosis of the disease.
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Bioinformatics And Clinical Interpretation
Bioinformatics
Clinical interpretation
We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.
Variant classification is the corner stone of clinical interpretation and resulting patient management decisions. Our classifications follow the ACMG guideline 2015.
The final step in the analysis is orthogonal confirmation. Sequence and copy number variants classified as pathogenic, likely pathogenic and variants of uncertain significance are confirmed using bi-directional Sanger sequencing or by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call.