Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

López-Gallardo, Ester (Universidad de Zaragoza) ; Cammarata-Scalisi, Francisco ; Emperador, Sonia (Universidad de Zaragoza) ; Hernández-Ainsa, Carmen (Universidad de Zaragoza) ; Habbane, Mouna ; Vela-Sebastián, Ana ; Bayona-Bafaluy, María Pilar (Universidad de Zaragoza) ; Montoya, Julio (Universidad de Zaragoza) ; Ruiz-Pesini, Eduardo (Universidad de Zaragoza)

Resumen: 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 tRNALys-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.

Idioma: Inglés

DOI: 10.1111/cge.13701

Año: 2020

Publicado en: Clinical Genetics 97, 5 (2020), 731-735
ISSN: 0009-9163

Factor impacto JCR: 4.438 (2020)

Categ. JCR: GENETICS & HEREDITY rank: 54 / 175 = 0.309 (2020) - Q2 - T1

Factor impacto SCIMAGO: 1.542 - Genetics (clinical) (Q1) - Genetics (Q1)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B33-17R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166

Tipo y forma: Artículo (PostPrint)

Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)