Recombinant Proteins
Product List
MMACHC Human
Methylmalonic Aciduria cblC type, with Homocystinuria Human Recombinant
MMACHC Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 306 amino acids (1-282 a.a) and having a molecular mass of 34.3kDa.
MMACHC is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
MMADHC Human
Methylmalonic Aciduria cblD type, with Homocystinuria Human Recombinant
Introduction
Methylmalonic Aciduria (MMA) is a rare metabolic disorder characterized by the accumulation of methylmalonic acid in the blood and urine. This condition results from a defect in the metabolism of methylmalonyl-CoA, a crucial intermediate in the catabolism of certain amino acids and fatty acids . MMA is classified as an organic acidemia and can be further divided into several subtypes based on the specific genetic mutations involved, such as MUT, MMAA, MMAB, and MMADHC .
MMA is primarily caused by deficiencies in the enzyme methylmalonyl-CoA mutase (MCM) or defects in the metabolism of its cofactor, adenosylcobalamin (a form of vitamin B12) . The expression of these enzymes is crucial for the proper breakdown of amino acids like isoleucine, valine, methionine, and threonine, as well as odd-chain fatty acids . The tissue distribution of these enzymes is widespread, but they are particularly important in the liver and kidneys, where significant metabolic processing occurs .
The primary function of the enzymes involved in MMA is to convert methylmalonyl-CoA to succinyl-CoA, a critical step in the Krebs cycle . This conversion is essential for energy production and the proper metabolism of certain amino acids and fatty acids . In the context of immune responses and pathogen recognition, MMA does not play a direct role, but the metabolic disturbances caused by MMA can impact overall cellular function and immune system efficiency .
The mechanisms of MMA involve the interaction of methylmalonyl-CoA mutase with its cofactor, adenosylcobalamin . Deficiencies in either the enzyme or the cofactor lead to the accumulation of methylmalonic acid . This accumulation can disrupt various cellular processes, including mitochondrial function and energy production . The downstream effects include metabolic acidosis, neurological damage, and renal dysfunction .
The expression and activity of the enzymes involved in MMA are regulated at multiple levels. Transcriptional regulation involves genes such as MUT, MMAA, MMAB, and MMADHC . Post-translational modifications, including the binding of adenosylcobalamin to methylmalonyl-CoA mutase, are crucial for enzyme activation . Additionally, the availability of vitamin B12 in the diet can significantly influence the activity of these enzymes .
In biomedical research, MMA serves as a model for studying metabolic disorders and mitochondrial dysfunction . Diagnostic tools for MMA include newborn screening, genetic testing, and biochemical assays to measure methylmalonic acid levels in blood and urine . Therapeutic strategies focus on dietary management, vitamin B12 supplementation, and in severe cases, organ transplantation .
MMA can present at any stage of life, from infancy to adulthood . In newborns, it often manifests as acute metabolic distress, while in older individuals, it may present with chronic symptoms such as developmental delays, neurological deficits, and renal dysfunction . Early diagnosis and intervention are crucial for improving outcomes and quality of life for affected individuals .
