Researchers have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to other genetic disorders.
The team, led by BRC-supported Professor Nicholas Wood, found people with Parkinson’s had a piece of DNA missing from chromosome 22q. This particular ‘chromosome deletion’ has up until now normally been associated with DiGeorge syndrome, a genetic disorder usually noticeable at birth that can cause heart defects and problems with the mouth, feeding and hearing.
Professor Wood said: “Our findings suggest there may be some Parkinson’s patients who also have undiagnosed DiGeorge disease. Interestingly, this deletion has also been reported in schizophrenia which, like Parkinson’s, involves dopamine signalling. The potential links and common pathophysiological mechanisms are very exciting indeed.”
The researchers studied large data sets from genome-wide association studies to find out more about rare copy number variants (CNVs) in Parkinson’s. CNVs refer to the duplications or deletions of genomic sequences and studies have linked common CMVs to a higher risk of developing several disorders, including schizophrenia and autism. Previous studies have shown common CNVs do not appear to play a role in Parkinson’s however the study, published today in The Lancet Neurology, looked at whether rare CNVs, such as the deletion in chromosome 22q, could.