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Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Jun Dong Park, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Hee Hwang, MD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Ki Joong Kim, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Yong Seung Hwang, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Jong-Hee Chae, MD, PhD

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea,

Jung-Eun Cheon, MD, PhD

Department of Radiology, Seoul National University College of Medicine, Seoul, Korea

In One Kim, MD, PhD

Department of Radiology Seoul National University College of Medicine, Seoul, Korea

Ran Lee, MD, PhD

Department of Pediatrics, Konkuk University, School of Medicine, Seoul, Korea

Han Ku Moon, MD, PhD

Department of Pediatrics, Yeoungnam University College of Medicine, Dae-gu, Korea

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.

Key Words: childhood mitochondrial encephalopathy • T10191C • G13513A • respiratory chain • Leigh syndrome

Journal of Child Neurology, Vol. 24, No. 7, 828-832 (2009)
DOI: 10.1177/0883073808331085


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