Parkinson's chromosome deletion linked to other genetic disorders
21 April 2016
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Researchers, led by BRC-supported Professor Nicholas Wood, MyAV·¶ Institute of Neurology, have made a breakthrough in their understanding of Parkinsonâs disease after they discovered a chromosome deletion linked to Parkinsonâs 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 Parkinsonâs disease had a piece of DNA missing from chromosome 22q. This particular âchromosome deletionâ 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.
âOur findings suggest there may be some Parkinsonâs patients who also have undiagnosed DiGeorge disease. Interestingly, this deletion has also been reported in schizophrenia which, like Parkinsonâs, involves dopamine signalling. The potential links and common pathophysiological mechanisms are very exciting indeed.â Professor Wood
The researchers studied large data sets from genome-wide association studies to find out more about rare copy number variants (CNVs) in Parkinsonâs 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 Parkinsonâs disease. This study, published in The Lancet Neurology, looked at whether rare CNVs, such as the deletion in chromosome 22q, could.
"This association of Parkinsonâs disease with chromosomal 22q deletion highlights the clinical significance in identifying deletion carriers among patients with Parkinsonâs disease, particular patients that have younger age of onset. The study found those Parkinsonâs 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, MyAV·¶ Institute of Neurology
Further information:
- Mok K et al. . Lancet Neurology 2016, Volume 15, No. 6, p585â596. 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