Researchers identify genetic marker for heart failure

A team of scientists at The University of Texas Health Science Center at Houston has identified powerful predictors of congestive heart failure. This is major cause of hospitalization and death in the United States with approximately 5.7 million adults affected in 2016. They analyzed how gene mutations affect circulating metabolites in the human body.

A mutated gene, SLCO1B1, was found to be associated with high levels of blood fatty acid, which is a strong predictor for the development of future heart failure and the mutation itself has a direct effect on heart failure risk. A major risk factor of heart failure is high blood pressure, or hypertension, which is more common among African-Americans. While the finding was made in a population of African-American participants, the researchers were able to confirm the relationship among European Americans as well.

Because of the aging population, the estimated prevalence and cost of care for heart failure is expected to increase dramatically. By 2030, it's estimated that more than 8 million people in the United States will have heart failure with $70 billion total costs, according to the American Heart Association.

Diabetes Gene Found in Mice and Men

Laboratory work conducted by Dr. Johan Auwerx and Dr. Ruedi Aebersold confirmed a pathological process indicating the presence of type 2 diabetes in both mice and men. Researchers conducted an in-depth genome and  phenome (phenotypic characteristics) study of a family of mice comprised of 183 members. The initial approach was to investigate the metabolic process of two twin mice who endured different environmental and diet lifestyles. The influence from the environment directly correlates to the expression of certain genes. The expression of these genes determines the risk of developing certain diseases; in this study – type 2 diabetes. To obtain further evidence, a spectroscopy technique was used to identify hundreds of proteins in each individual. Researchers found a particular gene located on Chromosome 2 that was linked to type 2 diabetes.

The image above displays the expression of the gene
researchers discovered in the development of type 2 diabetes.

According to Evan Williams, PhD student and article co-author, “The mice with a high-fat diet are more or less likely to develop diabetes depending on whether this gene is active or not [1].” The diabetic mice also displayed low urinary levels of a metabolite called 2-aminoadipate. The presence of 2-aminoadipate was directly related to the presence of the particular gene, and not related to a rodents body fat. This prompted an investigation in humans. Of nearly 1000 patients, those who were diabetic showed a considerably lower presence of 2-aminoadipate than those who were not. The urinary marker identified by the researches will allow doctors to easily detect type 2 diabetes in new patients. It is fascinating to see the correlation between mice and humans. Since our genomes are so closely related, this allows researchers to identify new techniques to discover other related diseases using a similar approach as Auwerx and Aebersold. 

[1] Article: http://www.sciencedaily.com/releases/2014/09/140911125904.htm

Article Related - Metabolite 2-Aminoadipate: http://www.hmdb.ca/metabolites/hmdb00510