Choline dehydrogenase, mitochondrial

Choline dehydrogenase, mitochondrial (CHDH) is a 594-amino acid enzyme localized to mitochondria that catalyzes the oxidation of choline to betaine aldehyde, a key step in the betaine biosynthesis pathway (UniProt: Q8NE62). This enzyme participates in one-carbon metabolism and osmoregulation, processes essential for cellular energy production and membrane integrity. CHDH is expressed across multiple tissues with enrichment in organs with high metabolic demand.

CHDH has been curated as a disease:ad entity within the Chaparral Knowledge Platform, indicating potential relevance to Alzheimer's Disease pathology. Alzheimer's Disease involves progressive neurodegeneration accompanied by mitochondrial dysfunction and altered metabolic homeostasis. Given CHDH's mitochondrial localization and role in choline metabolism, dysregulation of this enzyme could impact energy metabolism and membrane dynamics in affected neurons.

Human post-mortem Alzheimer's disease brain tissue shows upregulation of CHDH relative to age-matched controls (Chaparral AD proteomics: mean log2FC = 0.56, direction: up). This elevation was detected in one subcellular fraction from a TMT-labeled differential proteomics study examining four fractions (P2, P3, S2, S3) from post-mortem tissue. The functional significance of increased CHDH in AD neurodegeneration remains to be established.