[PDF][PDF] Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy

B York, EL Reineke, JV Sagen, BC Nikolai, S Zhou… - Cell metabolism, 2012 - cell.com
B York, EL Reineke, JV Sagen, BC Nikolai, S Zhou, JF Louet, AR Chopra, X Chen, G Reed
Cell metabolism, 2012cell.com
Oxidation of lipid substrates is essential for survival in fasting and other catabolic conditions,
sparing glucose for the brain and other glucose-dependent tissues. Here we show Steroid
Receptor Coactivator-3 (SRC-3) plays a central role in long chain fatty acid metabolism by
directly regulating carnitine/acyl-carnitine translocase (CACT) gene expression. Genetic
deficiency of CACT in humans is accompanied by a constellation of metabolic and toxicity
phenotypes including hypoketonemia, hypoglycemia, hyperammonemia, and impaired …
Summary
Oxidation of lipid substrates is essential for survival in fasting and other catabolic conditions, sparing glucose for the brain and other glucose-dependent tissues. Here we show Steroid Receptor Coactivator-3 (SRC-3) plays a central role in long chain fatty acid metabolism by directly regulating carnitine/acyl-carnitine translocase (CACT) gene expression. Genetic deficiency of CACT in humans is accompanied by a constellation of metabolic and toxicity phenotypes including hypoketonemia, hypoglycemia, hyperammonemia, and impaired neurologic, cardiac and skeletal muscle performance, each of which is apparent in mice lacking SRC-3 expression. Consistent with human cases of CACT deficiency, dietary rescue with short chain fatty acids drastically attenuates the clinical hallmarks of the disease in mice devoid of SRC-3. Collectively, our results position SRC-3 as a key regulator of β-oxidation. Moreover, these findings allow us to consider platform coactivators such as the SRCs as potential contributors to syndromes such as CACT deficiency, previously considered as monogenic.
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