Aminomethyltransferase, mitochondrial

Aminomethyltransferase (AMT) is a mitochondrial enzyme that participates in the glycine cleavage system, catalyzing the degradation of glycine (UniProt: P48728). This system is essential for amino acid metabolism within mitochondria. Mutations in AMT are associated with glycine encephalopathy 2 (GCE2, MIM 620398), a severe metabolic disorder marked by elevated glycine levels in body fluids and early-onset neurological symptoms including seizures and developmental impairment (UniProt: P48728).

In Alzheimer's Disease, AMT is significantly upregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics), with a mean log2 fold-change of 0.78 across subcellular fractions. This upregulation was detected via TMT-labeled tandem mass spectrometry analysis of four subcellular compartments (P2, P3, S2, S3 fractions). The elevation of a mitochondrial glycine metabolism enzyme in AD brain suggests a potential role for altered amino acid catabolism in disease pathology, though the mechanistic significance requires further investigation.