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July 9, 2024 — In a significant breakthrough for metabolic research, a team of US scientists has developed a cutting-edge discovery platform aimed at elucidating the functions of genes involved in metabolism. The new platform, termed ‘GeneMAP’ (Gene-Metabolite Association Prediction), promises to advance our understanding of metabolic processes and their implications for various diseases.
The innovative GeneMAP platform has already made a notable discovery by identifying a gene crucial for mitochondrial choline transport. This finding, detailed in a study published in Nature Genetics, marks a significant step forward in metabolic biology.
“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 of the proteins,” explained Eric Gamazon, Associate Professor of Medicine at Vanderbilt University Medical Center.
Metabolic reactions are vital for numerous physiological functions, including nutrient absorption, energy production, waste disposal, and the synthesis of cellular building blocks such as proteins, lipids, and nucleic acids. Given the critical role these processes play, abnormalities in metabolic functions are linked to a range of disorders, including neurodegenerative diseases and cancers.
About 20 percent of protein-coding genes are dedicated to metabolism. These genes encode small-molecule transporters and enzymes, which are essential for maintaining metabolic balance. However, many of these metabolic proteins remain “orphaned,” with their specific functions and substrates unknown.
To address this gap, the research team developed GeneMAP, a platform designed to uncover the functions of these “orphan” transporters and enzymes. The interdisciplinary nature of the study, combining genomics and metabolism, was pivotal in the discovery of the mitochondrial choline transporter.
“What’s exciting about this study is its interdisciplinarity — the combination of genomics and metabolism to identify a long-sought mitochondrial choline transporter,” Gamazon remarked. This approach can potentially reveal the substrates of a broad spectrum of enzymes and transporters, thereby “deorphanising” many metabolic proteins.
The development of GeneMAP represents a promising advancement in metabolic research, with potential applications in understanding and treating various metabolic disorders. By shedding light on the functions of previously enigmatic proteins, this platform may pave the way for new therapeutic targets and strategies.
As researchers continue to explore the capabilities of GeneMAP, the scientific community anticipates further groundbreaking discoveries that could transform our approach to metabolic health and disease.
