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Knight 2020 Mitochondrion

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Publications in the MiPMap
Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK (2020) The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion 55:8-13.

Β» PMID: 32931937

Knight Kaz M, Shelkowitz Emily, Larson Austin A, Mirsky David M, Wang Yue, Chen Ting, Wong Lee-Jun, Friederich Marisa W, Van Hove Johan L K (2020) Mitochondrion

Abstract: Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T > C variant in MT-ATP6 encoding p.(Leu169Pro), with primary presentation of microcephaly, ataxia, hearing loss, and lactic acidosis. Functional studies reveal abnormal fragment F1 of complex V on blue native gel electrophoresis. Respirometry showed excessively tight coupling through complex V depressing oxygen consumption upon ADP stimulation and an excessive increase following uncoupling, in the presence of upregulation of mitochondrial biogenesis. These data add evidence about pathogenicity and functional impact of this variant. β€’ Keywords: Blue native PAGE, Complex V, MT-ATP6, Phenotype, Respirometry β€’ Bioblast editor: Plangger M β€’ O2k-Network Lab: US CO Denver Van Hove J

Labels: MiParea: Respiration, mtDNA;mt-genetics 

Enzyme: Complex V;ATP synthase 

HRR: Oxygraph-2k