Isohanni 2018 Neurogenetics
|Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. Neurogenetics 19:49-53.|
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.
Labels: MiParea: Respiration, mtDNA;mt-genetics Pathology: Inherited
Organism: Human Tissue;cell: Skeletal muscle, Blood cells, Fibroblast Preparation: Permeabilized cells
Coupling state: OXPHOS, ET Pathway: N, S, CIV, NS HRR: Oxygraph-2k
Labels, 2018-03, PMBCs