Scientists develop platform to help define functions for 'orphan' metabolic proteins

New Delhi : A team of US scientists on Monday announced the development of a discovery platform to probe the function of genes involved in metabolism.

The scientists used the new platform, called 'GeneMAP' (Gene-Metabolite Association Prediction), to identify a gene necessary for mitochondrial choline transport.

Abnormalities in metabolic functions are associated with a range of disorders including neurodegenerative diseases and cancers, according to the study published in the journal Nature Genetics.

"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," said Eric Gamazon, Associate Professor of Medicine at Vanderbilt University Medical Center in the US.

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 per cent of protein-coding genes are dedicated to metabolism, including genes that code for small-molecule transporters and enzymes, Gamazon said.

To discover functions for "orphan" transporters and enzymes — proteins with unknown substrates — the researchers developed the GeneMAP discovery platform.

"What’s exciting about this study is its interdisciplinarity — the combination of genomics and metabolism to identify a long-sought mitochondrial choline transporter," Gamazon said.

This approach can help identify the substrates of a wide range of enzymes and transporters, and "deorphanise" these metabolic proteins.