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Saturday, 29 November 2008 20:44

Gene sources of human metabolic rates found

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According to a German-led research study, four genes were found that control the rate at which humans burn food, what is called their metabolic rate. Their discovery is likely to help doctors  better diagnosis and treat medical problems such as obesity, heart disease, and diabetes.


Dr. Karsten Suhre, from the Helmholtz Center in Munich, Germany, led the research study.

Dr. Suhre’s team studied 284 male human subjects. They scanned their genes and ultimately found that four genes (FADS1, LIPC, SCAD, and MCAD) contributed to differing rates of metabolism in humans.

FADS1 is short for fatty acid desaturase 1. The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family, whose enzymes regulate unsaturation of fatty acids.

LIPC is the abbreviation for lipase, hepatic. It is a type of lipase (water-soluable enzyme within water-insoluble lipid substrates), which functions in the liver and adrenal glands.

SCAD is the abbreviation for short-chain acyl-coenzyme A (CoA) dehydrogenase. It is an enzyme that catalyzes the initial reaction in short-chain fatty acid β-oxidation.

MCAD is short for medium-chain acyl-coenzyme A (CoA) dehydrogenase. Similar to SCAD, a deficiency in MCAD leads to a fatty acid oxidation disorder that is linked to problems of metabolism.

The researchers stated in the abstract to their paper, “We found associations of frequent single nucleotide polymorphisms (SNPs) with considerable differences in the metabolic homeostasis of the human body, explaining up to 12% of the observed variance. Using ratios of certain metabolite concentrations as a proxy for enzymatic activity, up to 28% of the variance can be explained …."

This important medical research study will help scientists better understand how the human body works. Medically, it will provide in the future better means to maintain the health and prevent diseases in humans.

Please read on.




The researchers stated, "We identified four genetic variants in genes coding for enzymes (FADS1, LIPC, SCAD, MCAD) where the corresponding metabolic phenotype (metabotype) clearly matches the biochemical pathways in which these enzymes are active.”

Such genes help to control how quickly or slowly human bodies break down food into basic substances that are spread throughout the body to build new cells, provide energy, and, ultimately, keep all of us alive.

According to the MSNBC article “Scientists find four genes that drive metabolism,” Dr. Suhre stated, "These genes appear to be involved or play a key role in metabolism.”

Suhre and fellow colleagues wrote the paper “Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum” that describes their conclusons. The paper is published in the journal Public Library of Science (PLoS) Genetics.

According to the PLoS Genetics website that describes their paper, the authors report that their study is, “… to the best of our knowledge, the first genome-wide association (GWA) study with metabolic traits as phenotypic traits.”

They add, “By simultaneous measurements of single nucleotide polymorphisms (SNPs) and serum concentrations of endogenous organic compounds in a human population, we identify genetically determined variants in metabolic phenotype (metabotype) that exhibit large effect sizes.”

"Four of these polymorphisms are located in genes coding for well-characterized enzymes of the lipid metabolism.”

The researchers state that they found “… that individuals with different genotypes in these genes have significantly different metabolic capacities with respect to the synthesis of some polyunsaturated fatty acids, the beta-oxidation of short- and medium-chain fatty acids, and the breakdown of triglycerides.”

They conclude, “… findings could result in a step towards personalized health care and nutrition based on a combination of genotyping and metabolic characterization.”

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