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Войти в исследования Medicine · 2020
Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder.
Письмо в редакциюКомментарийНазвание и аннотация: Перевод в очереди
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Finsterer Josef
Аннотация
BACKGROUND: Mitochondrial disorders (MIDs) are usually multisystem disorders, affecting not only a single organ/tissue but also progressively more than one.
METHODS: Letter to the Editor.
RESULTS: Though phenotypic manifestations of the m.1555A>G mutation are usually mono-organic, there are indications that short stature, osteoporosis, arterial hypertension, and recurrent headache can be also a manifestation of this variant.MID patients with apparently single organ involvement need to be prospectively investigated for multisystem disease, as multisystem manifestations can be subtle or even subclinical.Concerning the phenotypic expression of the m.1555A>G variant it is crucial to know the heteroplasmy rates in various tissues, as they may strongly contribute to the phenotypic expression of the disease. Maternal transmission can be confirmed by running a basic local alignment search tool.
CONCLUSIONS: The m.1555A>G variant is not only associated with hearing loss but with a number of other multiorgan manifestations. Heteroplasmy rate are required for establishing a genotype/phenotype correlation.
METHODS: Letter to the Editor.
RESULTS: Though phenotypic manifestations of the m.1555A>G mutation are usually mono-organic, there are indications that short stature, osteoporosis, arterial hypertension, and recurrent headache can be also a manifestation of this variant.MID patients with apparently single organ involvement need to be prospectively investigated for multisystem disease, as multisystem manifestations can be subtle or even subclinical.Concerning the phenotypic expression of the m.1555A>G variant it is crucial to know the heteroplasmy rates in various tissues, as they may strongly contribute to the phenotypic expression of the disease. Maternal transmission can be confirmed by running a basic local alignment search tool.
CONCLUSIONS: The m.1555A>G variant is not only associated with hearing loss but with a number of other multiorgan manifestations. Heteroplasmy rate are required for establishing a genotype/phenotype correlation.