DNAJC13 mutation screening in patients with Parkinson's disease from South Italy

Parkinsonism Relat Disord. 2018 Oct;55:134-137. doi: 10.1016/j.parkreldis.2018.06.004. Epub 2018 Jun 4.

Abstract

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder, and the most common neurodegenerative form of parkinsonism. Recently, a pathogenic mutation (p.N855S) in DNAJC13 was linked to autosomal dominant Lewy body PD in a Dutch-German-Russian Mennonite multi-incident kindred, and was found in five additional patients. In this study, we performed a comprehensive screening of the DNAJC13 gene in familial PD and sporadic PD to assess the frequency of known and novel rare nonsynonymous variants.

Methods: We screened 563 sporadic and 168 familial PD patients and a control series (n = 1000) for the coding region of DNAJC13.

Results: Our sequencing analysis identified two carriers of the c.2708G > A (p.R903K) variant in exon 24 of DNAJC13. One of these carriers is a familial PD.

Conclusion: The p. R903K variant was not found in 1000 healthy controls and it is localized in a functional domain of the DNAJC13 protein. Further studies are necessary to evaluate the role of DNAJC13 variants in PD.

Keywords: Autosomal dominant form; DNAJC13; Parkinson’s disease.

MeSH terms

  • Aged
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease / genetics*
  • HSP40 Heat-Shock Proteins / genetics*
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics*

Substances

  • DNAJC3 protein, human
  • HSP40 Heat-Shock Proteins