Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study

Shi, Yuqing; Chen, Guohong; Sun, Dan; Hu, Chaoping; Liu, Zhimei; Shen, Danmin; Wang, Junling; Song, Tianyu; Zhang, Weihua; Li, Jiuwei; Ren, Xiaotun; Tong, Haizhou; Ding, Changhong; Wang, Yi; Fang, Fang

doi:10.1016/j.mito.2021.11.006

Cited by 8 publications

(3 citation statements)

References 43 publications

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“…Novel mtDNA variants are constantly being associated with Leigh syndrome. These include m.3482A>G (Hayashi et al 2021) or m.3955G>A (Shi et al 2022) in MT-ND1, as well as new nuclear genes VPS13D or NAXE (Lee et al 2020).…”

Section: Nuclear Dna-encoded Mitochondrial Diseasesmentioning

confidence: 99%

Mitochondria and mitochondrial disorders: an overview update

Rambani

Hromnikova

Gašperíková

et al. 2022

Endocrine Regulations

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Mitochondria, the cell powerhouse, are membrane-bound organelles present in the cytoplasm of almost all the eukaryotic cells. Their main function is to generate energy in the form of adenosine triphosphate (ATP). In addition, mitochondria store calcium for the cell signaling activities, generate heat, harbor pathways of intermediate metabolism and mediate cell growth and death. Primary mitochondrial diseases (MDs) form a clinically as well as genetically heterogeneous group of inherited disorders that result from the mitochondrial energetic metabolism malfunctions. The lifetime risk of the MDs development is estimated at 1:1470 of newborns, which makes them one of the most recurrent groups of inherited disorders with an important burden for society. MDs are progressive with wide range of symptoms of variable severity that can emerge congenitally or anytime during the life. MD can be caused by mutations in the mitochondrial DNA (mtDNA) or nuclear DNA genes. Mutations inducing impairment of mitochondrial function have been found in more than 400 genes. Furthermore, more than 1200 nuclear genes, which could play a role in the MDs’ genetic etiology, are involved in the mitochondrial activities. However, the knowledge regarding the mechanism of the mitochondrial pathogenicity appears to be most essential for the development of effective patient’s treatment suffering from the mitochondrial disease. This is an overview update focused on the mitochondrial biology and the mitochondrial diseases associated genes.

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Section: Nuclear Dna-encoded Mitochondrial Diseasesmentioning

confidence: 99%

Mitochondria and mitochondrial disorders: an overview update

Rambani

Hromnikova

Gašperíková

et al. 2022

Endocrine Regulations

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show abstract

“…A shortcoming of the study is that the heteroplasmy rate (relation of mutated mtDNA to wild-type mtDNA in a single mitochondrion or single cell) of the m.3243A>G variant was not provided [ 1 ]. Knowing heteroplasmy rates in various tissues is crucial as they determine the clinical course and outcome of MELAS patients [ 4 ]. It would be also interesting to know the mtDNA copy number (absolute number of mtDNA copies within a mitochondrion or single cell) as it is a further factor determining the phenotype.…”

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confidence: 99%

Assessing the anesthetic effectiveness of remimazolam in MELAS patients requires careful investigations

Finsterer¹

2022

JA Clin Rep

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“…Second, in our case, we did not present the heteroplasmy rate because it was never tested in his medical history. We agree that the heteroplasmy rate in various tissues is important to know their clinical course and prognosis [ 3 ]. We do not deny this point, but as anesthesiologists, it is somewhat difficult to deal with heteroplasmy rates.…”

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confidence: 99%