Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia

Neurol Sci. 2014 Mar;35(3):443-8. doi: 10.1007/s10072-013-1557-8. Epub 2013 Oct 4.

Abstract

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). Twinkle is one of the nuclear genes associated with adPEO. Clinical, histochemical, and molecular genetics findings of 6 patients from two Chinese families with adPEO were reported. Two point mutations (c.1423G>C, p.A475P and c.1061G>C, p.R354P) of Twinkle gene have been found. Multiple mtDNA deletions were also detected in patient's muscle and fibroblasts. This study confirms two mutations in Chinese adPEO families, which were first reported in the Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Muscle, Skeletal / pathology
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Point Mutation / genetics*

Substances

  • Mitochondrial Proteins
  • DNA Helicases
  • TWNK protein, human