Monday, September 26, 2022

Test For Parkinson’s Gene

Genetics And Parkinsons Disease

Neuro Talk: How Can We Diversify Parkinsons Genetic Testing?

The symptoms of Parkinsons disease appear to occur when the brain is no longer able to produce enough dopamine. Low dopamine levels in the brain can affect movement. It is not yet clear what role genetic factors may play in this process.

However, experts have identified specific genes in which changes appear to increase the risk of developing Parkinsons disease. The symptoms a person experiences may depend on their specific genetic changes.

Genetic changes can affect how mitochondria work. Mitochondria are the parts of a cell that produce energy. As they do this, they release byproducts commonly known as free radicals. Free radicals can cause cell damage.

Usually, cells can counter free radicals, but genetic changes can stop this from happening, and the free radicals can cause damage to dopamine cells.

Genetic changes can also lead to accumulations of a protein called alpha-synuclein in and around neurons throughout the brain. These accumulations are known as Lewy bodies, and the damage they cause can result in Lewy body dementia, which has links to Parkinsons disease.

Dopamine-producing nerve cells appear to be particularly susceptible to Lewy bodies, and some people develop both Parkinsons disease and Lewy body dementia.

Specific gene changes have specific outcomes. For example, SNCA affects the processing of alpha-synuclein, and PRKN impacts how mitochondria work.

The genetic changes involved in Parkinsons disease can be:

Blood Test May Help Distinguish Parkinsons From Similar Diseases

Researchers have found that people with Parkinsons disease have lower levels of a certain protein in their blood than people with similar diseases. The results suggest that testing for the protein might help doctors to accurately differentiate between PD and similar diseases early on. The study appears in the February 8 online edition of Neurology.

Because there are no definitive diagnostic tests for Parkinsons, the diagnosis can be unclear especially early on in the disease. When diagnosis is uncertain, some people may be diagnosed with parkinsonism, which refers to a category of diseases, including Parkinsons, that cause slowness of movement, stiffness and rest tremor. Other diseases in the category include multiple system atrophy , progressive supranuclear palsy and corticobasal degeneration .

Earlier studies found that a spinal fluid test may help distinguish PD from these other diseases, but this test is difficult to do during a routine visit to the doctor.

Results

  • Blood levels of NfL protein were generally lower in people with PD and in healthy individuals than in people with other Parkinsonian disorders.
  • This result held both for those recently diagnosed and those who had been living with their disease for four to six years.
  • The test for NfL could not distinguish between MSA, PSP and CBD.

What Does It Mean?

References

Hansson O, Janelidze S, Hall S, et al. . Blood-Based NfL: A Biomarker for Differential Diagnosis of Parkinsonian Disorder. Neurology 88: 1-8

Why Genetic Testing For Parkinsons Disease Is Complex:

  • There are many genes that are associated with the development of PD. This list continues to grow as more genes are discovered. Testing of only some of these genes is available in commercial labs.
  • The majority of people with PD, even those with a family history of PD, do not harbor one of these identified abnormal genes. The genetic contribution to PD in these people is yet to be discovered.
  • For a particular gene there may be a number of different mutations associated with disease, some of which are more common than others. Commercial testing may identify only the most common of the mutations, and therefore not capture everyone who carries a disease-causing mutation.
  • Conversely, only particular mutations in a gene may be associated with disease. Commercial testing may identify changes in a gene that may not have clinical consequences. This can be confusing for patients who even after genetic testing may not know whether they harbor a disease-causing mutation.
  • Different mutations can be enriched in different ethnic populations. For example, Ashkenazi Jews and North African Berbers have an increased risk of carrying Leucine rich repeat kinase 2 mutations. Glucocerebrosidase mutation frequency also varies greatly with ethnicity and is also increased among Ashkenazi Jews.

In addition to the above, it is important to realize that not all genes associated with PD contribute to disease in the same way:

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Working To Improve Standard Of Parkinsons Care

PD GENErations goal is to improve the standard of Parkinsons care. In the near future, the hope is that everyone diagnosed with Parkinsons will receive genetic testing. For those who may have PD-related genetic mutation, doctors will be able to create a specific treatment plan that will respond best to their type of genetically connected Parkinsons.

We are aiming to offer a new, more efficient standard of care that every doctor can use as a starting point when treating people with Parkinsons, said Anna Naito, PhD, Associate Vice President of Clinical Research. While Parkinsons Foundation Centers of Excellence will be leaders in the PD field to offer this new, improved standard of care, our goal is to provide all doctors with access to provide improved care for their patients.

Genetic Testing And Counseling Mostly Seen Favorably In Study

How To Test For Parkinsons Gene

The online survey a 52-item multiple choice questionnaire was sent to 8,858 MDS members.

Overall, 568 members completed the survey, of whom 52% were movement specialists and 31% general neurologists. The remaining 16% had other specialties. The majority of the respondents were from Europe and America , followed by Asia/Oceania and Africa .

Across the different world regions, 54% of the respondents reported that genetic testing was available only at selected centers. Moreover, 32% of general neurologists had access to genetic testing, while 14% reported lack of available tests in their country.

The major barrier to testing was its cost, according to 57% of the respondents.

The results of this survey show that only half of the responders report that genetic tests are available in their regions. Cost is the most common barrier in most regions Chin-Hsien Lin, MD, professor at the National Taiwan University Hospital, who was not involved in the study, said in a press release.

In our region, because the national health insurance does not cover the fees for genetic tests, patients need to pay on their own. In this case, many patients who have a family history of Parkinsons disease, or movement disorders, or young-onset patients may not have the chance to receive the genetic tests to reach a molecular diagnosis, Lin added.

Additional barriers identified included patients fears of discrimination or difficulties in obtaining insurance, as well as lack of information.

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Genetic Testing And Parkinson’s

Research suggests that a combination of genetic and environmental factors leads to the development of Parkinsons in most cases. Research continues to determine how these factors interact, and the extent to which each is involved. Current research suggests that only about five percent of cases of Parkinsons can be definitely linked to a genetic cause.

Although there are a few families in which more than one person develops Parkinsons, it is rare for the condition to be passed from one generation to the next. Most research suggests that the condition develops as a result of genetic susceptibility and an external trigger, such as environmental chemicals. Exactly how this happens is not yet clear.

Researchers have so far identified a number of genes that seem to be linked to Parkinsons, including the parkin, PINK1, PARK7, SNCA and LRRK2 genes. It is important to note, however, that a mutation of one of these genes does not necessarily mean that the condition will develop.

Genetic testing for several Parkinsons genes is now quite widely available. From a medical point of view, this can help to confirm a diagnosis of Parkinsons. However, the decision to undergo genetic testing needs to be made carefully, as it may have implications for other family members. Knowing there is an increased risk of developing Parkinsons may cause unnecessary worry in people who may never go on to develop the condition.

Genetic Testing Cannot Tell You If You Will Or Will Not Get Parkinsons

Parkinson’s is not linked to any single gene mutation that causes disease 100 percent of the time. If you do test positive for a PD-linked mutation, it does not mean you will absolutely get Parkinson’s. There are actions you can take, such as exercise, to lower risk. Conversely, if you test negative for a PD-linked mutation, you may still develop Parkinson’s. Other mutations and factors such as aging and environmental causes also contribute to risk. Science is working to better understand who does get Parkinson’s and why.

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Monogenic Parkinson’s Disease: Genotype Phenotype Pathophysiology And Genetic Testing

Abstract

Parkinson’s disease may be caused by a single pathogenic variant in 5-10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Well-established Parkinson’s disease genes include autosomal dominant forms and autosomal recessive forms . Furthermore, mutations in the GBA gene are a key risk factor for Parkinson’s disease, and there have been major developments for X-linked dystonia parkinsonism. Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2, DCTN1, DNAJC6, FBXO7, PLA2G6, and SYNJ1. Furthermore, numerous genes have recently been implicated in Parkinson’s disease, such as CHCHD2, LRP10, TMEM230, UQCRC1, and VPS13C. Additionally, we discuss the role of heterozygous mutations in autosomal recessive genes, the effect of having mutations in two Parkinson’s disease genes, the outcome of deep brain stimulation, and the role of genetic testing. We highlight that monogenic Parkinson’s disease is influenced by ethnicity and geographical differences, reinforcing the need for global efforts to pool large numbers of patients and identify novel candidate genes.

Type

Research Into Genes And Parkinsons

Ask the MD: Genetic Testing in Parkinson’s Disease

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.

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Australian Parkinson’s Genetic Study

APGS aims to recruit thousands of participants with Parkinsons disease to help scientists crack the code of Parkinsons disease. Better understanding the genetic basis of Parkinsons is essential to accelerate the discovery of new drug therapies to prevent, slow, stop and cure Parkinsons Disease.

Participation is easy and can be done from the comfort of your home. It involves a ~25 minutes online questionnaire and providing a saliva sample via traditional post.

What Are The Benefits Of Genetic Testing

ESCAPE is developing a new therapy for patients with Parkinsons disease caused by a mutation in theLRRK2 gene. It is hoped that this therapy may be able to stop or slow the progression of the disease. Since most people with Parkinson√Ęs disease have never been tested for LRRK2 mutations, ESCAPE is providing free genetic testing via mail which is an at-home saliva test. If a patient is found to have a mutation in theLRRK2 gene they will be invited to take part in certain clinical studies for patients with Parkinsons disease and this specific gene mutation.

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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.

Genetics Testing In Parkinsons Disease

Parkinsons Disease DNA Test  DNA Access Lab

Genetic testing in Parkinsons 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.

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Ways The Parkinson’s Foundation Is Changing Genetic Testing

The newest signature initiative from the Parkinsons Foundation is not only the first bilingual study to offer genetic testing and genetic counseling in English and Spanish at no cost for people with Parkinsons disease , but it is already making waves in the research world.

PD GENEration: Mapping the Future of Parkinsons Disease is a national effort that will ultimately lead to improved treatments and care for all people with Parkinsons. What many might not know is that through its design and launch, the study and results of its comprehensive genetics testing panel have already made major impacts for the PD research community:

Can Parkinsons Be Passed From Parent To Child

Its rare for Parkinsons disease to be passed down from parent to child. Most cases of Parkinsons arent hereditary. But people who get early-onset Parkinsons disease are more likely to have inherited it.

Having a family history of Parkinsons disease may increase the risk that youll get it. This means that having a parent or sibling with Parkinsons slightly increases the risk.

In most cases, the cause of Parkinsons disease remains unknown. But researchers have identified multiple risk factors that can increase your chances of getting this disease.

Risk factors for Parkinsons disease include:

  • mutations in specific genes associated with Parkinsons
  • having a family history of Parkinsons or a first-degree family member with Parkinsons
  • being older, especially above the age of 60
  • exposure to herbicides and pesticides
  • being assigned male at birth
  • history of brain injury

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When To See A Doctor About Parkinsons

There isnt one specific test to diagnose Parkinsons disease. Doctors will usually evaluate your symptoms and perform several tests to determine if you have the condition. If you notice the following early warning signs, then you should see a doctor.

The early warning signs of Parkinsons disease include:

People Who Already Have Pd: Should I Get Tested And What Do I Do With The Results

Genetics of Parkinson’s Disease

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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Genetic Testing Is Primarily For Research Not Care

Genetic testing as part of a research study is not necessarily intended to provide you with personal medical information and, in some studies, you may not learn your results. As of this writing, even if you discover that you do carry a genetic mutation, these results will not significantly alter your personal medical care. Some studies are testing new therapies in mutation carriers. Your genetic status may allow you to participate in research studies, partnering with scientists to add to our existing knowledge about brain disease and help evaluate new treatments.

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