AI Article Synopsis
- The study investigates the link between dermatological symptoms and mitochondrial DNA mutations, particularly focusing on multiple symmetric lipomatosis.
- A new mutation (m.8357T>C) was identified in the tRNA-coding gene of a patient with this condition, and its harmful effects were confirmed through laboratory techniques.
- The findings indicate that the skin symptoms observed may not be typical in patients with mitochondrial DNA mutations and suggest that the lipomatosis could be due to a different mitochondrial tRNA-related function rather than issues with oxidative phosphorylation.
Article Abstract
The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNA -coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs.
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| http://dx.doi.org/10.1111/cge.13701 | DOI Listing |
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