Scientists used a new platform called 'GeneMap' (Gene-Metabolite Association Prediction) to identify genes required for mitochondrial choline transport.
According to the study published in the journal Nature Genetics, abnormalities in metabolic functions are linked to several disorders, including neurodegenerative diseases and cancer.
"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 proteins," said Eric Gamazon, MD, associate professor of medicine at Vanderbilt University Medical Center. Said. We.
Metabolic reactions play important roles in nutrient absorption, energy production, waste disposal, and synthesis of cellular building blocks, including proteins, lipids, and nucleic acids.
About 20 percent of protein-coding genes are dedicated to metabolism, Gamazon said, including genes that code for small-molecule transporters and enzymes.
Researchers developed the GeneMap Discovery Platform to discover the functions of “orphan” transporters and enzymes – proteins with unknown substrates.
“What is exciting about this study is its interdisciplinarity – combining genomics and metabolomics to identify the long-sought mitochondrial choline transporter,” Gamazon said.
This approach can help identify the substrates of a wide range of enzymes and transporters, and "de-orphanize" these metabolic proteins.
According to the study published in the journal Nature Genetics, abnormalities in metabolic functions are linked to several disorders, including neurodegenerative diseases and cancer.
"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 proteins," said Eric Gamazon, MD, associate professor of medicine at Vanderbilt University Medical Center. Said. We.
Metabolic reactions play important roles in nutrient absorption, energy production, waste disposal, and synthesis of cellular building blocks, including proteins, lipids, and nucleic acids.
About 20 percent of protein-coding genes are dedicated to metabolism, Gamazon said, including genes that code for small-molecule transporters and enzymes.
Researchers developed the GeneMap Discovery Platform to discover the functions of “orphan” transporters and enzymes – proteins with unknown substrates.
“What is exciting about this study is its interdisciplinarity – combining genomics and metabolomics to identify the long-sought mitochondrial choline transporter,” Gamazon said.
This approach can help identify the substrates of a wide range of enzymes and transporters, and "de-orphanize" these metabolic proteins.
