ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed.
- Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report.Cureus · 2020Article
- Unmasking fibromyalgia as a mitochondrial disorder requires search for more than a single variant or single mtDNA deletions.The Indian journal of medical research · 2020Article
- Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Letter to the Editor: Comments on "Obesity associated with a novel mitochondrial tRNACys m.5802A>G mutation in a Chinese family".Bioscience reports · 2020Article
- Cluster headache as a manifestation of a stroke-like episode in a carrier of theWorld journal of clinical cases · 2020Article
- Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.Case reports in neurological medicine · 2020Article
- Multisystem mitochondrial disorder is more prevalent thaneNeurologicalSci · 2019Article
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7 authors.
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Abstract
Mitochondrial tRNAs are responsible for more than half of pathogenic point mutations in the mitochondrial genome (mtDNA). Different mutations give rise to widely differing phenotypes, ranging from isolated organ-specific diseases to multisystem conditions. Herein, we report a 40-year-old woman presenting with a complex multisystem phenotype including sensorineural hearing loss, retinopathy, severe dilated cardiomyopathy, non-insulin dependent diabetes mellitus, and renal failure. Sequence analysis of mtDNA identified the m.5522G>A mutation in MT-TW, the gene encoding mitochondrial tRNA for tryptophan. The heteroplasmic variant, thus far described once, was almost exclusively confined to skeletal muscle tissue, as shown by massive parallel sequencing and corroborated by an ad hoc designed PCR-based strategy. This patient, presenting a severe, multisystem involvement apparently sparing the brain, contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNAs.
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