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Hindrik Mulder

Hindrik Mulder

Principal investigator

Hindrik Mulder

Diabetes in Friedreich Ataxia

Author

  • Miriam Cnop
  • Hindrik Mulder
  • Mariana Igoillo-Esteve

Summary, in English

Diabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease. Increased body adiposity and insulin resistance are frequently present in Friedreich ataxia, but pancreatic cell dysfunction and death are a conditio sine qua non for the loss of glucose tolerance and development of diabetes. The loss of frataxin function in mitochondria accounts for these pathogenic processes in Friedreich ataxia. Mitochondria are essential for the sensing of nutrients by the cell and for the generation of signals that trigger and amplify insulin secretion, known as stimulus-secretion coupling. Moreover, in the intrinsic pathway of apoptosis, pro-apoptotic signals converge on mitochondria, resulting in mitochondrial Bax translocation, membrane permeabilization, cytochrome c release and caspase cleavage. How and at which level frataxin deficiency impacts on these processes in cells is only partially understood. A better understanding of the molecular mechanisms mediating cell demise in Friedreich ataxia will pave the way for new therapeutic approaches.

Department/s

  • Diabetes - Molecular Metabolism
  • EXODIAB: Excellence in Diabetes Research in Sweden

Publishing year

2013

Language

English

Pages

94-102

Publication/Series

Journal of Neurochemistry

Volume

126

Document type

Journal article review

Publisher

Wiley-Blackwell

Topic

  • Neurosciences

Keywords

  • apoptosis
  • diabetes
  • Friedreich ataxia
  • insulin
  • insulin resistance
  • pancreatic beta cell

Status

Published

Research group

  • Diabetes - Molecular Metabolism

ISBN/ISSN/Other

  • ISSN: 1471-4159