Recombinant Proteins

p53
LBP
CEA
HLA
TCL
TTC
NPM
MAF
Bax
BID

MMACHC Human

Methylmalonic Aciduria cblC type, with Homocystinuria Human Recombinant

Recombinant human MMACHC, expressed in E. coli, is a single, non-glycosylated polypeptide chain consisting of 306 amino acids (residues 1-282) with a molecular weight of 34.3 kDa. The protein includes a 24-amino acid His-tag at the N-terminus and is purified using proprietary chromatographic methods.
Shipped with Ice Packs
Cat. No.
BT11726
Source
Escherichia Coli.
Appearance
Clear, colorless solution, sterile-filtered.

MMADHC Human

Methylmalonic Aciduria cblD type, with Homocystinuria Human Recombinant

Recombinant human MMADHC, expressed in E. coli, is a single, non-glycosylated polypeptide chain. It consists of 281 amino acids (residues 39-296) and has a molecular weight of 31.0 kDa. The protein includes a 23 amino acid His-tag fused at the N-terminus.
Shipped with Ice Packs
Cat. No.
BT11796
Source
Escherichia Coli.
Appearance
A clear solution that has been sterilized by filtration.
Definition and Classification

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 .

Biological Properties

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 .

Biological Functions

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 .

Modes of Action

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 .

Regulatory Mechanisms

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 .

Applications

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 .

Role in the Life Cycle

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 .

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