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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.

Journal article
Authors Ali-Reza Moslemi
Niklas Darin
Mar Tulinius
L. M. Wiklund
Elisabeth Holme
Anders Oldfors
Published in Neuropediatrics
Volume 39
Issue 1
Pages 24-8
ISSN 0174-304X
Publication year 2008
Published at Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Clinical Sciences
Pages 24-8
Language en
Keywords Acidosis, Lactic, etiology, pathology, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, methods, DNA, Mitochondrial, chemistry, genetics, Developmental Disabilities, etiology, pathology, Electron Transport Complex I, deficiency, genetics, metabolism, Fatal Outcome, Female, Humans, Infant, Infant, Newborn, Mitochondrial Encephalomyopathies, complications, enzymology, genetics, Mutation, Missense, NADH Dehydrogenase, genetics, Oxidative Phosphorylation, Psychomotor Disorders, etiology, pathology
Subject categories Cell and Molecular Biology


Complex I of the oxidative phosphorylation system is composed of at least 45 subunits, seven of which are encoded by mitochondrial DNA (mtDNA). In this study we have investigated two children with complex I deficiency in muscle mitochondria. Patient 1 had cerebellar ataxia from early infancy and an abnormal MRI of the brain compatible with Leigh syndrome (LS). The course was rapidly progressive with frequent exacerbations and death at 2 years and 10 months of age. Patient 2 had a lactic acidosis in the newborn period and had a severe psychomotor developmental retardation. In her teens she developed hypertrophic cardiomyopathy and died at 26 years of age because of cardiac insufficiency. Sequencing analysis of mitochondrial encoded ND genes (MTND) showed two DE NOVO mutations in MTND1 in both patients. Patient 1 had a novel heteroplasmic G3890A mutation, R195Q. Patient 2 had a heteroplasmic G3481A mutation, E59K. The G3890A mutation in patient 1 is the first identified mutation in MTND1 in association with LS and complex I deficiency. The findings in this patient as well as in patient 2 demonstrate new clinical expressions of mutations in MTND1. The findings in patient 2 also illustrates that MTND mutations may be pathogenic even at a low percentage.

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