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A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Lookup NU author(s): Dr Charlotte Alston, Professor Rita HorvathORCiD, Professor Robert Taylor


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Isolated complex I deficiency is the most commonly reported enzyme defect in paediatric mitochondrial disorders, and may arise due to mutations in nuclear-encoded structural or assembly genes, or the mitochondrial genome. We present the clinical, biochemical and molecular genetic data in a young girl whose clinical picture is dominated by chronic renal failure, myopathy and persistent lactic acidosis. An isolated complex I deficiency in muscle was identified due to a novel mutation (m.12425delA) in the MTND5 gene. This single nucleotide deletion is heteroplasmic and detectable in several tissues from the proband but not her mother, suggesting a de novo Mutation event. The description of the first frameshift mutation in a mitochondrial complex I gene affirms mitochondrial DNA mutations as an important cause of isolated complex I deficiency in children and the importance of whole mitochondrial genome sequencing in the diagnostic work-up to elucidate the underlying molecular genetic abnormality and provide important genetic advice. (C) 2009 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Alston CL, Morak M, Reid C, Hargreaves IP, Pope SAS, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2010

Volume: 20

Issue: 2

Pages: 131-135

Print publication date: 01/02/2010

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2009.10.010


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Funder referenceFunder name
UK National Commissioning Group
Wellcome Trust
BH090164Academy of Medical Sciences
HO2505/2-1Deutsche Forschungsgemeinschaft
RES0211/7262Newcastle upon Tyne Hospitals NHS Charity