Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth

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Isohanni , P , Carroll , C J , Jackson , C B , Pohjanpelto , M , Lonnqvist , T & Suomalainen , A 2018 , ' Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth ' , Neurogenetics , vol. 19 , no. 1 , pp. 49-53 . https://doi.org/10.1007/s10048-018-0537-9

Title: Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth
Author: Isohanni, Pirjo; Carroll, Christopher J.; Jackson, Christopher B.; Pohjanpelto, Max; Lonnqvist, Tuula; Suomalainen, Anu
Contributor: University of Helsinki, Research Programme for Molecular Neurology
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
Date: 2018-01
Language: eng
Number of pages: 5
Belongs to series: Neurogenetics
ISSN: 1364-6745
URI: http://hdl.handle.net/10138/299129
Abstract: Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G > A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G > A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability. Our findings expand the phenotypic spectrum and show that mtDNA mutations should be taken account also with milder, stable phenotypes.
Subject: Mitochondrial diseases
Mitochondrial DNA
Intellectual disability
Lactic acidosis
OXIDATIVE-PHOSPHORYLATION
ATP6 GENE
DEFICIENCY
DISEASE
ATAXIA
3112 Neurosciences
3124 Neurology and psychiatry
3111 Biomedicine
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