Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.

Abstract

An increasing number of reports on mitochondrial DNA coding regions' mutations, especially in mitochondrial DNA- encoded NADH dehydrogenase (ND) subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra.

• Authors: Byung Chan Lim, Jun Dong Park, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae, Jung-Eun Cheon, In One Kim, Ran Lee, Han Ku Moon
• Journal: Journal of child neurology (J Child Neurol) Vol. 24 Issue 7 Pg. 828-32 (Jul 2009) ISSN: 1708-8283 [Electronic] United States
• PMID: 19617458 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Mitochondrial Proteins
• MT-ND5 protein, human
• Electron Transport Complex I
• MT-ND3 protein, human

Topics

• Acidosis, Lactic (genetics, pathology)
• Brain (pathology)
• Brain Diseases, Metabolic (genetics, pathology)
• Child
• Child, Preschool
• DNA, Mitochondrial (genetics)
• Electron Transport Complex I (genetics)
• Female
• Humans
• Leigh Disease (genetics, pathology)
• MELAS Syndrome (genetics, pathology)
• Magnetic Resonance Imaging
• Male
• Mitochondrial Diseases (genetics, pathology)
• Mitochondrial Encephalomyopathies (genetics, pathology)
• Mitochondrial Proteins (genetics)
• Mutation, Missense
• Sequence Analysis, DNA