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.
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Lund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Bacos, Karl
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Bjorkqvist, Maria
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Lund Univ, Dept Expt Med Sci, Neuronal Survival Unit, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Bjorkqvist, Maria
;
Petersen, Asa
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Dept Expt Med Sci, Translat Neuroendocrine Res Unit, BMC D11, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Petersen, Asa
;
Luts, Lena
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Univ Hosp, Dept Pathol, S-22185 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Luts, Lena
;
Maat-Schieman, Marion L. C.
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Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, NetherlandsLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Maat-Schieman, Marion L. C.
;
Roos, Raymund A. C.
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Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, NetherlandsLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Roos, Raymund A. C.
;
Sundler, Frank
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Lund Univ, Dept Expt Med Sci, Unit Neuroendocrinol Cell Biol, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Sundler, Frank
;
Brundin, Patrik
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Lund Univ, Dept Expt Med Sci, Neuronal Survival Unit, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Brundin, Patrik
;
Mulder, Hindrik
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Lund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Mulder, Hindrik
;
Wierup, Nils
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Lund Univ, Dept Expt Med Sci, Unit Neuroendocrinol Cell Biol, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
机构:
Lund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Bacos, Karl
;
Bjorkqvist, Maria
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Lund Univ, Dept Expt Med Sci, Neuronal Survival Unit, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Bjorkqvist, Maria
;
Petersen, Asa
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机构:
Dept Expt Med Sci, Translat Neuroendocrine Res Unit, BMC D11, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Petersen, Asa
;
Luts, Lena
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h-index: 0
机构:
Univ Hosp, Dept Pathol, S-22185 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Luts, Lena
;
Maat-Schieman, Marion L. C.
论文数: 0引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, NetherlandsLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Maat-Schieman, Marion L. C.
;
Roos, Raymund A. C.
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h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, NetherlandsLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Roos, Raymund A. C.
;
Sundler, Frank
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h-index: 0
机构:
Lund Univ, Dept Expt Med Sci, Unit Neuroendocrinol Cell Biol, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Sundler, Frank
;
Brundin, Patrik
论文数: 0引用数: 0
h-index: 0
机构:
Lund Univ, Dept Expt Med Sci, Neuronal Survival Unit, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Brundin, Patrik
;
Mulder, Hindrik
论文数: 0引用数: 0
h-index: 0
机构:
Lund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden
Mulder, Hindrik
;
Wierup, Nils
论文数: 0引用数: 0
h-index: 0
机构:
Lund Univ, Dept Expt Med Sci, Unit Neuroendocrinol Cell Biol, S-22184 Lund, SwedenLund Univ, Dept Expt Med Sci, Unit Mol Metab, S-20502 Malmo, Sweden