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Article

Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

Scientific reports - 4 Nov 2016

Wen Shuzhen, Niedzwiecka Katarzyna, Zhao Weiwei, Xu Shutian, Liang Shaoshan, Zhu Xiaodong, Xie Honglang, Tribouillard-Tanvier Déborah, Giraud Marie-France, Zeng Caihong, Dautant Alain, Kucharczyk Róża, Liu Zhihong, di Rago Jean-Paul, Chen Huimei

Abstract excerpt

Here we elucidated the pathogenesis of a 14-year-old Chinese female who initially developed an isolated nephropathy followed by a complex clinical presentation with brain and muscle problems, which indicated that the disease process was possibly due to a mitochondrial dysfunction. Careful evaluation of renal biopsy samples revealed a decreased staining of cells induced by COX and NADH dehydrogenase activities,...

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Identifiers

PMID: 27812026
DOI: 10.1038/srep36313
PMCID: PMC5095641

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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