Article
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Orphanet journal of rare diseases - 12 Jul 2013
Donadille Bruno, D'Anella Pascal, Auclair Martine, Uhrhammer Nancy, Sorel Marc, Grigorescu Romulus, Ouzounian Sophie, Cambonie Gilles, Boulot Pierre, Laforêt Pascal, Carbonne Bruno, Christin-Maitre Sophie, Bignon Yves-Jean, Vigouroux Corinne
Abstract excerpt
BACKGROUND: Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. METHODS: We analysed the...
Topics
- Adult
- Cells, Cultured
- Cellular Senescence
- Exodeoxyribonucleases
- Female
- Fibroblasts
- Humans
- Infant, Newborn
- Insulin Resistance
- Lipodystrophy
- Mutation
- Pregnancy
- RecQ Helicases