Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis
Ester López‐Gallardo, Francisco Cammarata‐Scalisi, Sonia Emperador, Carmen Hernández‐Ainsa, Mouna Habbane, Ana Vela‐Sebastián, M. Pilar Bayona‐Bafaluy, Julio Montoya, Eduardo Ruiz‐Pesini
Abstract
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 Lys ‐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.