Health
Certain genetic mutations can cause someone to live with Parkinson’s disease
How long someone lives with Parkinson’s disease may depend on a particular genetic mutation, according to a new study published today.th European Society of Neurology (EAN) Conference.
Scientists at four laboratories in Paris, including the prestigious Paris Brain Institute at Sorbonne University, have studied records of 2,037 Parkinson’s disease patients since their first hospital visit, and genetic mutations have accelerated or slowed the progression of Parkinson’s disease. I think it has the potential to reveal that. A single gene is involved.
Hazard ratios calculated by researchers have made it possible to compare the survival rates of patients with gene mutations with controls without gene mutations.Patients who had either LRRK2 Also PRKN Genetic mutations had a longer survival time than patients without the genetic mutation (hazard ratio of death = 0.5 and 0.42, respectively). vice versa, SNCA Also obtain Mutations had shorter survival times than those without mutations (hazard ratio of death = 10.20 and 1.36, respectively).
Principal Researcher Dr. Aymeric Lanore Researchers at the Paris Brian Institute said this was the first study to compare the survival times of patients with these four genes responsible for a single genotype of Parkinson’s disease.
Result is, SNCA When obtain Patients may be associated with faster motor progression of the disease and early onset of cognitive impairment. These are important new insights that help develop new drugs that target these genetic variants and help delay or stop the disease. “
Dr. Aymeric Lanore, Paris Brian Institute
Parkinson’s disease is a condition in which a part of the brain is gradually damaged over time. There are motor symptoms such as involuntary tremors, slow movement, and muscle stiffness in some parts of the body, but there are also non-motor symptoms of illness such as progressive cognitive decline.2 About 1.2 million people in Europe have Parkinson’s disease, which is projected to double by 2030.
A single genotype of Parkinson’s disease (caused by a single genetic mutation) accounts for about 5% of all cases because it has no family history and appears to occur sporadically. Alterations in the LRRK2 gene are probably the most common genetic variation associated with Parkinson’s disease. People with this variant are more likely to develop the disease later in life and are 70% more likely to be diagnosed by the age of 80.
“These findings not only help to better understand what promotes Parkinson’s disease progression, but also allow clinicians to talk honestly with patients so that they can communicate their prognosis. It may make it possible for patients to make decisions about their care and time remaining. “
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