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Mol Metab. 2017 May 31;6(9):1040-1051. doi: 10.1016/j.molmet.2017.05.014. eCollection 2017 Sep.

Transcribing β-cell mitochondria in health and disease.

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Unit of Molecular Metabolism, Lund University Diabetes Centre, Malmö, Sweden.



The recent genome-wide association studies (GWAS) of Type 2 Diabetes (T2D) have identified the pancreatic β-cell as the culprit in the pathogenesis of the disease. Mitochondrial metabolism plays a crucial role in the processes controlling release of insulin and β-cell mass. This notion implies that mechanisms controlling mitochondrial function have the potential to play a decisive pathogenetic role in T2D.


This article reviews studies demonstrating that there is indeed mitochondrial dysfunction in islets in T2D, and that GWAS have identified a variant in the gene encoding transcription factor B1 mitochondrial (TFB1M), predisposing to T2D due to mitochondrial dysfunction and impaired insulin secretion. Mechanistic studies of the nature of this pathogenetic link, as well as of other mitochondrial transcription factors, are described.


Based on this, it is argued that transcription and translation in mitochondria are critical processes determining mitochondrial function in β-cells in health and disease.


AMPK, AMP-dependent protein kinase; ATGL, adipocyte triglyceride lipase; COX, Cytochrome c oxidase; CYTB, Cytochrome b; ERR-α, Estrogen-related receptor-α; Expression quantitative trait locus (eQTL); GDH, Glutamate dehydrogenase; GSIS, Glucose-stimulated insulin secretion; GWAS, Genome-wide association study; Genome-wide association study (GWAS); HSL, Hormone-sensitive lipase; ICDc, Cytosolic isocitrate dehydrogenase; Insulin secretion; Islets; KATP, ATP-dependent K+-channel; MTERF, Mitochondrial transcription termination factor; Mitochondria; ND, NADH dehydrogenase; NRF, Nuclear respiratory factor; NSUN4, NOP2/Sun RNA methyltransferase family member 4; OXPHOS, Oxidative phosphorylation; PC, Pyruvate carboxylase; PDH, pyruvate dehydrogenase; PGC, Peroxisome proliferator-activated receptor-γ co-activator; POLRMT, Mitochondrial RNA polymerase; POLγ, DNA polymerase-γ; PPARγ, Peroxisome proliferator-activated receptor-γ; PRC, PGC1-related coactivator; SENP1, Sentrin/SUMO-specific protease-1; SNP, Single Nucleotide Polymorphism; SUR1, Sulphonylurea receptor-1; T2D, Type 2 Diabetes; TCA, Tricarboxylic acid; TEFM, Mitochondrial transcription elongation factor; TFAM, Transcription factor A mitochondrial; TFB1M, Transcription factor B1 mitochondrial; TFB2M, Transcription factor B2 mitochondrial; eQTL, Expression quantitative trait locus; β-Cell

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