UNIGE document Scientific Article
previous document  unige:28879  next document
add to browser collection
Title

Identification of a SIRT1 mutation in a family with type 1 diabetes

Authors
Biason-Lauber, Anna
Böni-Schnetzler, Marianne
Hubbard, Basil P
Brunner, Andrea
Cavelti-Weder, Claudia
Keller, Cornelia
Meyer-Böni, Monika
show hidden authors show all authors [1 - 37]
Published in Cell Metabolism. 2013, vol. 17, no. 3, p. 448-55
Abstract Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative colitis. Initially, a 26-year-old man was diagnosed with the typical features of type 1 diabetes, including lean body mass, autoantibodies, T cell reactivity to β cell antigens, and a rapid dependence on insulin. Direct and exome sequencing identified the presence of a T-to-C exchange in exon 1 of SIRT1, corresponding to a leucine-to-proline mutation at residue 107. Expression of SIRT1-L107P in insulin-producing cells resulted in overproduction of nitric oxide, cytokines, and chemokines. These observations identify a role for SIRT1 in human autoimmunity and unveil a monogenic form of type 1 diabetes.
Identifiers
PMID: 23473037
Full text
Article (Published version) (958 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Fonction de l'îlot de Langerhans (324)
Citation
(ISO format)
BIASON-LAUBER, Anna et al. Identification of a SIRT1 mutation in a family with type 1 diabetes. In: Cell Metabolism, 2013, vol. 17, n° 3, p. 448-55. https://archive-ouverte.unige.ch/unige:28879

209 hits

0 download

Update

Deposited on : 2013-07-11

Export document
Format :
Citation style :