Please use this identifier to cite or link to this item:
Title: Detecting somatic mutations in UK Parkinson's disease patient brain samples using whole exome sequencing (WES)
Authors: Mok, Chin Yi
Keywords: Science::Biological sciences::Genetics
Issue Date: 2019
Abstract: Parkinson’s disease is a neurological disorder mainly caused by the depletion of dopaminergic neuronal cells in the substantia nigra, which is often the main site of pathogenesis. Although it has affected many patients worldwide over the years, mechanisms underlying neuronal loss remained largely unknown. We aimed to identify somatic or germline variants that may underlie the disease and are found either in PARK genes, or in genes related to neurological and lysosomal disorders in brains of Parkinson’s disease patients. Postmortem brain tissue samples from the substantia nigra were obtained from the Parkinson’s UK Brain Bank, and were subjected to high coverage whole exome sequencing. We identified a G2019S variant within the LRRK2 gene in a patient control who did not exhibit PD neuropathology. A stop-gain R772* mutation in LRRK2, as well as missense F52S variant in DCTN1, R5H and A3T variants in SPC24 were found in DNA isolated from the brain samples. Besides the G2019S variant, others were possible loss-of-function mutations which could have caused the encoded proteins to lose their normal function. Further work is necessary to determine whether these mutations can explain clinical symptoms related to the disease, or explain neuropathology observed in the brains of patient donors.
Rights: Nanyang Technological University
Fulltext Permission: restricted
Fulltext Availability: With Fulltext
Appears in Collections:SBS Student Reports (FYP/IA/PA/PI)

Files in This Item:
File Description SizeFormat 
U1640179H Final FYP Thesis.pdf
  Restricted Access
2.46 MBAdobe PDFView/Open

Page view(s)

Updated on May 11, 2021

Download(s) 50

Updated on May 11, 2021

Google ScholarTM


Items in DR-NTU are protected by copyright, with all rights reserved, unless otherwise indicated.