Скачать или смотреть Single mutation in recessive gene increases risk of earlier onset Parkinson’s disease

A collaboration of 32 researchers in seven countries, led by scientists at Mayo Clinic’s campus in Florida, has found a genetic mutation they say confers a risk for development of Parkinson’s disease earlier than usual.

The major study, published in Brain, is important because the risk comes from a single mutation in the PTEN-induced putative kinase 1 (PINK1) gene. Investigators had believed that this rare form of Parkinson’s developed only when a person inherited mutations in both PINK1 alleles (one from each parent).

“We know that if you have mutations in both copies of PINK1, age at onset of Parkinson’s will usually be younger than 45. This study showed that if a person inherited a specific mutation in just one PINK1 gene, the disease could develop at about age 55 or so. By contrast, the most common, nonfamilial forms of Parkinson’s develop at about age 65,” says the study’s senior investigator, Wolfdieter Springer, Ph.D., a neuroscientist at Mayo Clinic’s Florida campus.

Genetic studies had suggested that a single mutated PINK1 allele might confer an outsized risk of the developing the disease. It took a “very effective synergetic” effort of clinical, structural and cell biologists, along with geneticists and data from thousands of affected patients, to show how it led to earlier disease development, Dr. Springer says.