Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disturbed regulators of lipid and carbohydrate metabolism

Lipid and carbohydrate metabolism share scores of common regulators, so mutations in these regulators may disturb both metabolic pathways.

Systematic

Hereditary lipid disorders
Attenuated cholesterol lowering by statins
Disorders of mRNA editing
Disturbances of body fat distribution
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1
Dyslipidemia
Hepatic CPT-deficiency type 1A
Neutral lipid storage disease
Sea-blue histiocyte disease
Statin intolerance
Tangier Disease

References:

1.

Suhre K et. al. (2011) Human metabolic individuality in biomedical and pharmaceutical research.

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2.

Vaxillaire M et. al. (1994) Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.

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3.

Warner JP et. al. (1995) Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.

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4.

Hayward BE et. al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.

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5.

Hayward BE et. al. (1998) Organization of the human glucokinase regulator gene GCKR.

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6.

Farrelly D et. al. (1999) Mice mutant for glucokinase regulatory protein exhibit decreased liver glucokinase: a sequestration mechanism in metabolic regulation.

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7.

Grimsby J et. al. (2000) Characterization of glucokinase regulatory protein-deficient mice.

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8.

Vaxillaire M et. al. (2008) The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.

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9.

Orho-Melander M et. al. (2008) Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.

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10.

Beer NL et. al. (2009) The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

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11.

Dupuis J et. al. (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

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12.

Lloyd DJ et. al. (2013) Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors.

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Update: Sept. 26, 2018