香港六合彩中特网

Researchers, led by BRC-supported Professor Nicholas Wood, 香港六合彩中特网 Institute of Neurology, have made a breakthrough in their understanding of Parkinson鈥檚 disease after they discovered a chromosome deletion linked to Parkinson鈥檚 disease and other genetic disorders.This study analysed multiple datasets, including significant contribution from UKPD study and the IPDGC consortium, both had received funding from The Wellcome Trust/MRC. This study found people with Parkinson鈥檚 disease had a piece of DNA missing from chromosome 22q. This particular 鈥榗hromosome deletion鈥� has up until now normally been associated with DiGeorge syndrome, a genetic disorder usually noticeable at birth that can cause heart defects, problems with the mouth, feeding and hearing, and multiple other diseases.

鈥淥ur findings suggest there may be some Parkinson鈥檚 patients who also have undiagnosed DiGeorge disease. Interestingly, this deletion has also been reported in schizophrenia which, like Parkinson鈥檚, involves dopamine signalling. The potential links and common pathophysiological mechanisms are very exciting indeed.鈥� Professor Wood

The researchers studied large data sets from genome-wide association studies to find out more about rare copy number variants (CNVs) in Parkinson鈥檚 disease. CNVs refer to the duplications or deletions of genomic sequences and studies have linked common CNVs 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鈥檚 disease. This study, published in The Lancet Neurology, looked at whether rare CNVs, such as the deletion in chromosome 22q, could.

"This association of Parkinson鈥檚 disease with chromosomal 22q deletion highlights the clinical significance in identifying deletion carriers among patients with Parkinson鈥檚 disease, particular patients that have younger age of onset. The study found those Parkinson鈥檚 disease patients with the missing piece of chromosomal had multiple accompanying medical problems that warrant clinical attention, including medication-induced side effects, psychiatric and cognitive problems, and other undiagnosed congenital and biochemical abnormalities." Dr Mok, first author, Department of Molecular Neuroscience, 香港六合彩中特网 Institute of Neurology

Further information:

• Mok K et al. . Lancet Neurology 2016, Volume 15, No. 6, p585鈥�596. DOI: (16)00071-5

Image: Genomic location of the 22q11.2 deletions found in the eight patients with Parkinson's disease and location of the low copy repeat regions