A multidisciplinary research team has developed a discovery platform to probe the function of genes involved in metabolism -; the sum of all life-sustaining chemical reactions. The investigators used the new platform, called GeneMAP (Gene-Metabolite Association Prediction), to identify a gene necessary for mitochondrial choline transport. The resource and derived findings were published July 8 in the journal Nature Genetics .
We sought to gain insight into a fundamental question: 'How does genetic variation determine our "chemical individuality" -; the inherited differences that make us biochemically unique?" Eric Gamazon, PhD, associate professor of Medicine in the Division of Genetic Medicine at Vanderbilt University Medical Center Gamazon is the senior and co-corresponding author of the study with Kivanç Birsoy, PhD, of The Rockefeller University. Metabolic reactions play critical roles in nutrient absorption, energy production, waste disposal, and synthesis of cellular building blocks including proteins, lipids and nucleic acids. About 20% of protein-coding genes are dedicated to metabolism, including genes that code for small-molecule transporters and enzymes, Gamazon said.
Abnormalities in metabolic functions are associated with a range of disorders including neurodegenerative diseases and cancers. "Despite decades of research, many metabolic genes still lack known molecular substrates. The challenge is in part due to the enormous structural and functional diversity o.
