Researchers from Boston University School of Medicine (BUSM) report that the genes, which may influence the onset age of Parkinson's Disease (PD) have been identified.
The findings are the first to identify genes contributing to the variation in onset age and may help identify mechanisms and therapeutic targets capable of delaying symptoms.
AdvertisementPD is the second most common neurodegenerative disorder usually occurring late in life and is characterized by debilitating symptoms of tremor, rigidity, and slowed ability to start and continue movements.
The BUSM researchers performed analyses using genotypes generated with the Illumina HumanCNV370Duo array in a sample of 857 unrelated, familial PD cases.
Then, they performed a meta-analysis of imputed Single Nucleotide polymorphisms (SNPs) by combining the familial PD data with that from a previous genome-wide associated study (GWAS) of 440 idiopathic PD cases.
And they identified the 15q26.2 region as well as the gene AAK1 related to the previously observed PD susceptibility gene, GAK as areas that would benefit from further examination.
"Important distinctions can be made between those genes that influence susceptibility for developing disease, and the genetic modifiers that influence onset age," said joint lead author Dr. Jeanne C. Latourelle, from the department of neurology at BUSM.
Latourelle said that the findings highlight the importance of continuing the study of onset age of PD that could provide insight into the disease mechanisms and processes for delaying onset with implications for novel treatments.
The study has been published in BMC Medical Genetics.
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