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

Anna Biason-Lauber; Marianne Böni-Schnetzler; Basil P Hubbard; Karim Bouzakri; Andrea Brunner; Claudia Cavelti-Weder; Cornelia Keller; Monika Meyer-Böni; Daniel T Meier; Caroline Brorsson; Katharina Timper; Gil Leibowitz; Andrea Patrignani; Remy Bruggmann; Gino Boily; Henryk Zulewski; Andreas Geier; Jennifer M Cermak; Peter Elliott; James L Ellis; Christoph Westphal; Urs Knobel; Jyrki J Eloranta; Julie Kerr-Conte; François Pattou; Daniel Konrad; Christian M Matter; Adriano Fontana; Gerhard Rogler; Ralph Schlapbach; Camille Regairaz; José M Carballido; Benjamin Glaser; Michael W McBurney; Flemming Pociot; David A Sinclair; Marc Y Donath

doi:10.1016/j.cmet.2013.02.001

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

Anna Biason-Lauber, Marianne Böni-Schnetzler, Basil P Hubbard, Karim Bouzakri, Andrea Brunner, Claudia Cavelti-Weder, Cornelia Keller, Monika Meyer-Böni, Daniel T Meier, Caroline Brorsson, Katharina Timper, Gil Leibowitz, Andrea Patrignani, Remy Bruggmann, Gino Boily, Henryk Zulewski, Andreas Geier, Jennifer M Cermak, Peter Elliott, James L EllisChristoph Westphal, Urs Knobel, Jyrki J Eloranta, Julie Kerr-Conte, François Pattou, Daniel Konrad, Christian M Matter, Adriano Fontana, Gerhard Rogler, Ralph Schlapbach, Camille Regairaz, José M Carballido, Benjamin Glaser, Michael W McBurney, Flemming Pociot, David A Sinclair, Marc Y Donath

104 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Cell Metabolism
Vol/bind	17
Udgave nummer	3
Sider (fra-til)	448-55
Antal sider	8
ISSN	1550-4131
DOI	https://doi.org/10.1016/j.cmet.2013.02.001
Status	Udgivet - 5 mar. 2013

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10.1016/j.cmet.2013.02.001

Citationsformater

Biason-Lauber, A., Böni-Schnetzler, M., Hubbard, B. P., Bouzakri, K., Brunner, A., Cavelti-Weder, C., Keller, C., Meyer-Böni, M., Meier, D. T., Brorsson, C., Timper, K., Leibowitz, G., Patrignani, A., Bruggmann, R., Boily, G., Zulewski, H., Geier, A., Cermak, J. M., Elliott, P., ... Donath, M. Y. (2013). Identification of a SIRT1 mutation in a family with type 1 diabetes. Cell Metabolism, 17(3), 448-55. https://doi.org/10.1016/j.cmet.2013.02.001

Biason-Lauber, A, Böni-Schnetzler, M, Hubbard, BP, Bouzakri, K, Brunner, A, Cavelti-Weder, C, Keller, C, Meyer-Böni, M, Meier, DT, Brorsson, C, Timper, K, Leibowitz, G, Patrignani, A, Bruggmann, R, Boily, G, Zulewski, H, Geier, A, Cermak, JM, Elliott, P, Ellis, JL, Westphal, C, Knobel, U, Eloranta, JJ, Kerr-Conte, J, Pattou, F, Konrad, D, Matter, CM, Fontana, A, Rogler, G, Schlapbach, R, Regairaz, C, Carballido, JM, Glaser, B, McBurney, MW, Pociot, F, Sinclair, DA & Donath, MY 2013, 'Identification of a SIRT1 mutation in a family with type 1 diabetes', Cell Metabolism, bind 17, nr. 3, s. 448-55. https://doi.org/10.1016/j.cmet.2013.02.001

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title = "Identification of a SIRT1 mutation in a family with type 1 diabetes",

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.",

author = "Anna Biason-Lauber and Marianne B{\"o}ni-Schnetzler and Hubbard, {Basil P} and Karim Bouzakri and Andrea Brunner and Claudia Cavelti-Weder and Cornelia Keller and Monika Meyer-B{\"o}ni and Meier, {Daniel T} and Caroline Brorsson and Katharina Timper and Gil Leibowitz and Andrea Patrignani and Remy Bruggmann and Gino Boily and Henryk Zulewski and Andreas Geier and Cermak, {Jennifer M} and Peter Elliott and Ellis, {James L} and Christoph Westphal and Urs Knobel and Eloranta, {Jyrki J} and Julie Kerr-Conte and Fran{\c c}ois Pattou and Daniel Konrad and Matter, {Christian M} and Adriano Fontana and Gerhard Rogler and Ralph Schlapbach and Camille Regairaz and Carballido, {Jos{\'e} M} and Benjamin Glaser and McBurney, {Michael W} and Flemming Pociot and Sinclair, {David A} and Donath, {Marc Y}",

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AU - Biason-Lauber, Anna

AU - Böni-Schnetzler, Marianne

AU - Hubbard, Basil P

AU - Bouzakri, Karim

AU - Brunner, Andrea

AU - Cavelti-Weder, Claudia

AU - Keller, Cornelia

AU - Meyer-Böni, Monika

AU - Meier, Daniel T

AU - Brorsson, Caroline

AU - Timper, Katharina

AU - Leibowitz, Gil

AU - Patrignani, Andrea

AU - Bruggmann, Remy

AU - Boily, Gino

AU - Zulewski, Henryk

AU - Geier, Andreas

AU - Cermak, Jennifer M

AU - Elliott, Peter

AU - Ellis, James L

AU - Westphal, Christoph

AU - Knobel, Urs

AU - Eloranta, Jyrki J

AU - Kerr-Conte, Julie

AU - Pattou, François

AU - Konrad, Daniel

AU - Matter, Christian M

AU - Fontana, Adriano

AU - Rogler, Gerhard

AU - Schlapbach, Ralph

AU - Regairaz, Camille

AU - Carballido, José M

AU - Glaser, Benjamin

AU - McBurney, Michael W

AU - Pociot, Flemming

AU - Sinclair, David A

AU - Donath, Marc Y

PY - 2013/3/5

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N2 - 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.

AB - 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.

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DO - 10.1016/j.cmet.2013.02.001

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SN - 1550-4131

VL - 17

SP - 448

EP - 455

JO - Cell Metabolism

JF - Cell Metabolism

IS - 3

ER -

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

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