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

Artikel i vetenskaplig tidskrift
Författare Ali-Reza Moslemi
Niklas Darin
Mar Tulinius
L. M. Wiklund
Elisabeth Holme
Anders Oldfors
Publicerad i Neuropediatrics
Volym 39
Nummer/häfte 1
Sidor 24-8
ISSN 0174-304X
Publiceringsår 2008
Publicerad vid Institutionen för biomedicin, avdelningen för patologi
Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Institutionen för kliniska vetenskaper
Sidor 24-8
Språk en
Länkar dx.doi.org/10.1055/s-2008-1076739
Ämnesord 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
Ämneskategorier Cell- och molekylärbiologi

Sammanfattning

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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