Genes behind neurodegenerative disorder identified

London: A team of scientists has discovered three potential susceptibility genes for development of progressive supranuclear palsy (PSP) — a rare neurodegenerative disease.

The findings provide a ‘testable translational hypothesis’ as to the development and progression of PSP and may also provide clues into other more common brain disorders brought about by accumulation of tau protein in the brain, researchers say.

Those "tauopathies" include some forms of Parkinson``s disease, frontotemporal dementia, Alzheimer``s disease, and other disorders.

"These are promising gene candidates that may help us understand and potentially treat PSP," says neuropathologist Dennis W. Dickson, M.D., a study co-lead author.

To search for susceptibility genes, the research team conducted a genome-wide association study (GWAS), which examines the differences between the genomes of patients with a certain disease compared to a control group of participants without the disease.

In addition to finding that PSP patients had variants in their tau gene, which was expected, the researchers also found the three SNPs that appear to be candidate PSP genes.

Variants in these three genes were also found in the two control populations, but were significantly higher in the PSP patients (both brain samples and PSP blood samples). That suggests these genes do not cause PSP, but contribute to a person``s susceptibility to the disease, he says.

The findings were recently published online in Nature Genetics.


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