MCC genes, also known as methylcrotonoyl-CoA carboxylase (MCC) genes, refer to a set of genes that are responsible for encoding the protein subunits of the enzyme methylcrotonoyl-CoA carboxylase (MCC). This enzyme plays a crucial role in a metabolic pathway known as leucine catabolism.
The MCC enzyme is primarily involved in converting a molecule called methylcrotonyl-CoA, which is an intermediate product of leucine breakdown, into another molecule named methylglutaconyl-CoA. This reaction is important for the efficient utilization of leucine in the body.
A loss or mutation of MCC genes can lead to various metabolic disorders, such as MCC deficiency or MCC deficiency with anemia. Individuals affected by these disorders exhibit impaired breakdown of leucine, resulting in the accumulation of toxic metabolites. This can lead to a range of symptoms, including developmental delays, intellectual disability, and metabolic crises.
Clinicians and researchers study MCC genes to better understand the underlying genetic causes of MCC-related disorders and explore potential treatment options. Genetic testing can be conducted to identify specific mutations or variants in MCC genes, aiding in diagnosis and genetic counseling for affected individuals and their families.
Advancements in genetic research have paved the way for potential therapeutic approaches, including gene therapy or enzyme replacement therapy, aimed at restoring the functionality of MCC enzymes in affected individuals.
