Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

被引：96

作者：

Biason-Lauber, Anna ^{[1
]}

Boni-Schnetzler, Marianne ^{[2
,3
]}

Hubbard, Basil P. ^{[4
]}

Bouzakri, Karim ^{[5
]}

Brunner, Andrea ^{[2
,3
]}

Cavelti-Weder, Claudia ^{[2
,3
]}

Keller, Cornelia ^{[2
,3
]}

Meyer-Boni, Monika ^{[1
]}

Meier, Daniel T. ^{[2
,3
]}

Brorsson, Caroline ^{[6
]}

Timper, Katharina ^{[2
,3
]}

Leibowitz, Gil ^{[7
]}

Patrignani, Andrea ^{[8
]}

Bruggmann, Remy ^{[8
]}

Boily, Gino ^{[10
]}

Zulewski, Henryk ^{[2
,3
]}

Geier, Andreas ^{[11
]}

Cermak, Jennifer M. ^{[15
]}

Elliott, Peter ^{[15
]}

Ellis, James L. ^{[15
]}

Westphal, Christoph ^{[15
]}

Knobel, Urs ^{[2
,3
]}

Eloranta, Jyrki J. ^{[12
]}

Kerr-Conte, Julie ^{[16
]}

Pattou, Francois ^{[16
]}

Konrad, Daniel ^{[17
]}

Matter, Christian M. ^{[13
,14
]}

Fontana, Adriano ^{[9
]}

Rogler, Gerhard ^{[11
]}

Schlapbach, Ralph ^{[8
]}

Regairaz, Camille ^{[18
]}

Carballido, Jose M. ^{[18
]}

Glaser, Benjamin ^{[7
]}

McBurney, Michael W. ^{[10
]}

Pociot, Flemming ^{[6
]}

Sinclair, David A. ^{[4
]}

Donath, Marc Y. ^{[2
,3
]}

机构：

[1] Univ Fribourg, Dept Med, CH-1700 Fribourg, Switzerland

[2] Univ Hosp Basel, Endocrinol Diabet & Metab, CH-4031 Basel, Switzerland

[3] Univ Basel Hosp, Dept Biomed, CH-4031 Basel, Switzerland

[4] Harvard Sch Med, Paul F Glenn Labs Biol Mech Aging, Dept Genet, Boston, MA 02115 USA

[5] Univ Geneva, Univ Med Ctr, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[6] Glostrup Univ Hosp, Glostrup Res Inst, DK-2600 Glostrup, Denmark

[7] Hadassah Hebrew Univ, Dept Med, Endocrinol & Metab Serv, Med Ctr, IL-91120 Jerusalem, Israel

[8] Univ Zurich, Fed Inst Technol, Funct Genom Ctr Zurich, CH-8057 Zurich, Switzerland

[9] Univ Zurich, Inst Expt Immunol, CH-8057 Zurich, Switzerland

[10] Univ Ottawa, Ottawa, ON K1H 8L6, Canada

[11] Ctr Integrat Human Physiol, Gastroenterol &Hepatol, CH-8091 Zurich, Switzerland

[12] Ctr Integrat Human Physiol, Dept Clin Pharmacol & Toxicol, CH-8091 Zurich, Switzerland

[13] Ctr Integrat Human Physiol, Dept Cardiol, CH-8091 Zurich, Switzerland

[14] Univ Zurich Hosp, CH-8091 Zurich, Switzerland

[15] Sirtris, Cambridge, MA 02139 USA

[16] Univ Lille Nord France, F-59045 Lille, France

[17] Univ Childrens Hosp, CH-8032 Zurich, Switzerland

[18] Novartis Inst BioMed Res, CH-4002 Basel, Switzerland

来源：

CELL METABOLISM | 2013年 / 17卷 / 03期

基金：

加拿大自然科学与工程研究理事会; 瑞士国家科学基金会;

关键词：

MAMMALIAN SIRTUINS; INSULIN-SECRETION; BETA-CELLS; PROTEIN; EXPRESSION; KINASE; ROLES;

D O I：

10.1016/j.cmet.2013.02.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Type 1 diabetes is caused by autoimmune-mediated beta 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 beta 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.

引用

页码：448 / 455

页数：8

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