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Article

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

Scientific reports - 27 May 2021

Kishita Yoshihito, Ishikawa Kaori, Nakada Kazuto, Hayashi Jun-Ichi, Fushimi Takuya, Shimura Masaru, Kohda Masakazu, Ohtake Akira, Murayama Kei, Okazaki Yasushi

Abstract excerpt

Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leber's hereditary optic neuropathy (LHON) or dementia/dysarthria. In previous reports, less than 90% heteroplasmy was shown to result in adult-onset disease. Here, by whole mitochondrial sequencing, we identified m.14597A>G...

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Identifiers

PMID: 34045482
DOI: 10.1038/s41598-021-90196-5
PMCID: PMC8160132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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