Margarida Azevedo
April 21, 2016
Researchers found a genetic variation, known as the GG
genotype, that identifies those Parkinson’s disease (PD) patients more
likely to have slower disease progression — evidenced through tremors — and
lower levels of alpha-synuclein,
a protein linked to the disease. The findings have implications
in disease diagnosis and treatment strategies, and were recently presented at
the 68th Annual
Meeting of American Academy of Neurology in Vancouver, Canada.
Clinical evidence suggests that tremors seen as the initial
or dominant Parkinson’s symptom, as opposed to balance and walking problems,
point to a slower disease progression and lower risk of dementia
onset.
Researchers at the Perelman School of Medicine at the University
of Pennsylvania investigated single nucleotide polymorphisms (SNPs), genetic
variations among the population that, when occurring within a gene or
regulatory region near a gene, may affect its function with pathological
consequences.
The GG genotype, a relatively common SNP near the
alpha-synuclein (SNCA) gene, was found to be a predictor of disease severity.
Genotypes in a total of 251 PD patients were studied, with
the focus on 10 PD-associated genetic variations and their influence
on patients’ symptoms. Results revealed that 39 of the patients who
had the GG genotype were more likely to have tremors, as opposed to balance and
walking problems, slower physical disease progression, and lower levels of
alpha-synuclein in the brain, the major component of Lewy bodies, a
hallmark of PD that greatly contributes to neuronal death. The researchers
performed the same analysis in another 559 patients at three other
clinical sites in the U.S., finding similar associations between genotype and
PD symptoms.
“This is how we can start thinking about precision
medicine in action,” Dr. Alice S. Chen-Plotkin, MD, an assistant
professor of neurology and the study’s senior author, said in a news release.
“We found that a relatively common genetic variation can both serve
as a biomarker for and influence the disease course of Parkinson’s patients.
This opens up the possibility of achieving a hallmark of precision medicine:
targeted therapies for different ‘versions’ of what was once thought to be a
single disease.
http://parkinsonsnewstoday.com/2016/04/21/study-uncovers-genetic-variation-that-predicted-type-and-rate-of-physical-decline-in-patients-with-parkinsons-disease/
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