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Coronary heart disease is the leading cause of death in Western societies. Unfavorable serum lipid levels, high cholesterol, high triglycerides and low high-density lipoprotein (HDL) cholesterol, are well-known risk factors for atherosclerosis and coronary heart disease.

Familial combined hyperlipidemia (FCHL), characterized by these changes in patients serum is the most common familial lipid disorder predisposing to coronary heart disease. FCHL is observed in about 20% of coronary heart disease patients under 60 years and the prevalence being 1% to 2% of Western populations.

A Finnish/ U.S. research team has now identified the first major gene for FCHL, the most common hyperlipidemia predisposing to coronary heart disease. The hyperlipidemia gene encodes the upstream transcription factor 1 (USF1) that regulates several genes participating in glucose and lipid metabolism. The discovery of the genetic basis for FCHL and its component traits (high serum total cholesterol, triglycerides and low HDL), will help develop more accurate diagnostic and preventive tools as well as biology-based therapeutic strategies for this common lipid disorder predisposing to coronary heart disease and perhaps also to metabolic syndrome.

Applications

• Novel target for treatment of hyperlipidemia
• Diagnostics: as an individual test or part of an array of metabolic disease markers
• Pharmacogenomics: to assess association with drug responses to improve FCHL treatment efficacy

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Licentia Ltd.
Tarja Enala
tarja.enala@(at)licentia.fi

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