Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

Autor:	Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Rok vydání:	2022
Předmět:	Mitochondrial Encephalomyopathies Mutation Humans Molecular Medicine Cell Biology Leigh Disease Heteroplasmy DNA Mitochondrial Molecular Biology Probability
Zdroj:	Mitochondrion. 63:1-8
ISSN:	1567-7249
DOI:	10.1016/j.mito.2021.12.005
Popis:	The m.14453G A mutation in MT-ND6 has been described in a few patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes or Leigh syndrome.However, the clinical spectrum and molecular characteristics are unclear.Here, we present four infantile-onset patients with m.14453G A-associated Leigh syndrome. All four patients had brainstem lesions with basal ganglia lesions, and two patients had cardiac manifestations. Decreased ND6 protein expression and immunoreactivity were observed in patient-derived samples. There was no clear correlation between heteroplasmy levels and onset age or between heteroplasmy levels and phenotype; however, infantile onset was associated with Leigh syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f23be9bf011a6d9c7d54e720258e30 https://doi.org/10.1016/j.mito.2021.12.005 Zobrazit plný text záznamu Full Text from ScienceDirect