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

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.

• Authors: Kunqian Ji, Kaiming Liu, Pengfei Lin, Bing Wen, Yue-Bei Luo, Yuying Zhao, Chuanzhu Yan
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 35 Issue 3 Pg. 443-8 (Mar 2014) ISSN: 1590-3478 [Electronic] Italy
• PMID: 24091712 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Mitochondrial Proteins
• DNA Helicases
• TWNK protein, human

Topics

• 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)