A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Biomed Res Int

Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.

Published: March 2017

AI Article Synopsis

  • Parkinson's disease is the second most common brain disorder after Alzheimer's and can be caused by changes in certain genes.
  • Researchers found a new gene change in a 58-year-old man from Morocco that might cause a type of Parkinson's disease that starts early and worsens quickly.
  • The specific change they discovered is different from what's found in other people, which suggests it could be linked to this person's Parkinson's disease symptoms.

Article Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson's disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L/F at position 539 located in highly conserved motif in the C terminal sequence of PINK1. Interestingly, the c.1617G>C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson's disease with rapid progression and early cognitive impairment.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931068PMC
http://dx.doi.org/10.1155/2016/3460234DOI Listing

Publication Analysis

Top Keywords

parkinson's disease
12
pink1 gene
8
terminal sequence
8
sequence pink1
8
novel homozygous
4
homozygous pl539f
4
pl539f mutation
4
mutation identified
4
pink1
4
identified pink1
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!