ArticleMedicine2020
Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder.
Article in Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.Frontiers in cell and developmental biology · 2024Article
- Hearing loss in Africa: current genetic profile.Human genetics · 2022Review
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial disorders (MIDs) are usually multisystem disorders, affecting not only a single organ/tissue but also progressively more than one.
methodsLetter to the Editor.
resultsThough 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.
conclusionsThe 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.
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