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

Year: 2021
Type: article
Study design: Case Report
Abstract: 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.
DOI: 10.1016/j.mito.2021.12.005
Authors: 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
Language: English
Open Access status: hybrid
Estimated APC paid: $2,800
Awards: G1116898236, Comprehensive analysis of of aberrant gene expression in mitochondrial disorders, G2206101315, ミトコンドリア病診療マニュアルの改定を見据えた、診療に直結させるミトコンドリア病・各臨床病型のエビデンス創出研究, G7335171159, Establishment of novel non-invasive diagnostic methods for mitochondrial cardiomyopathy
OpenAlex ID: W4200577435
FWCI: 0.35
Cites: 35
Cited by: 10
Related to: 10