Recent research advances in the biological function and molecular mechanism of methylmalonic acid

Zi'ang Wang1, Wenhui Cheng1, Teng Wang1

  • 1Laboratory of Animal Fat Deposition and Muscle Development, Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.

Insights

Methylmalonic acid (MMA) accumulation causes severe organ damage and is linked to cancer and developmental issues. This review explores MMA

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Pathophysiology

Background:

  • Methylmalonic acid (MMA) accumulation is the primary cause of methylmalonic acidemia.
  • MMA buildup can lead to irreversible damage in the brain, kidneys, and cardiovascular system.
  • Emerging research links MMA blood levels to cancer, restricted movement, and growth retardation.

Purpose of the Study:

  • To review recent studies on the link between MMA metabolic abnormalities and disease.
  • To explore the impact of MMA on the brain, kidneys, cardiovascular system, cancer development, and skeletal muscles.
  • To provide a foundation for future research and treatment of MMA-related conditions.

Main Methods:

  • Literature review of recent scientific studies.
  • Synthesis of findings on MMA metabolism and disease association.
  • Categorization of effects based on affected organ systems and conditions.

Main Results:

  • Abnormal MMA accumulation significantly impacts multiple organ systems.
  • Established links between MMA and neurological, renal, and cardiovascular pathologies.
  • New associations found between MMA and oncogenesis, impaired motility, and stunted growth.

Conclusions:

  • MMA metabolic dysfunction is a critical factor in various diseases.
  • Understanding MMA's role is vital for developing targeted therapies.
  • Further research is warranted to elucidate MMA's full pathophysiological impact.

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
990
Phase II Reactions: Methylation Reactions01:17

Phase II Reactions: Methylation Reactions

Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
854
Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...
1.4K
Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives01:35

Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives

Just like β-keto acids—which upon thermal decarboxylation form ketones—β-dicarboxylic acids undergo decarboxylation to generate monocarboxylic acids with the liberation of carbon dioxide.
2.8K
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
18.3K
Amino Acid Biosynthetic Pathways01:29

Amino Acid Biosynthetic Pathways

Amino acid biosynthesis is essential for cell growth, protein synthesis, and metabolic regulation. Cells generate essential and non-essential amino acids from metabolic intermediates to sustain vital biological functions. These intermediates originate from key metabolic pathways: glycolysis, the tricarboxylic acid (TCA) cycle, and the pentose phosphate pathway. Important precursors include α-ketoglutarate, pyruvate, oxaloacetate, phosphoenolpyruvate, and erythrose-4-phosphate, which...
1.6K