Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.

Abstract

Leigh syndrome is a genetically heterogeneous, neurodegenerative disorder that predominantly affects children and leads to death within months or years. Mutations causing this disease have been found in both mitochondrial and nuclear DNA. The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene. Polymerase chain reaction-restriction fragment length polymorphism analysis with the MspI restriction endonuclease, quantified with a digital image analyzer and gel documentation system, showed that the T8993G mutation was present with a high percentage in the blood of the three patients tested. This mutation was also detected in the asymptomatic mothers of these three patients (90, 96, and 60%). Two novel mitochondrial mutations were identified in the mitochondrial ATP6 gene -- T8741G (L72R) and A8795G (H90R) -- and three novel polymorphisms. Altogether, Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding.

• Authors: Emna Mkaouar-Rebai, Wissem Chaari, Samia Younes, Raoudha Bousoffara, Mohamed Tahar Sfar, Faiza Fakhfakh
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 40 Issue 6 Pg. 437-42 (Jun 2009) ISSN: 1873-5150 [Electronic] United States
• PMID: 19433277 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MT-ATP6 protein, human
• Mitochondrial Proton-Translocating ATPases

Topics

• Child
• Female
• Humans
• Infant
• Leigh Disease (genetics)
• Male
• Mitochondrial Proton-Translocating ATPases (genetics)
• Mutation
• Pedigree
• Pregnancy
• Tunisia