Gene Therapy to Treat Osteopenia Associated With Chronic Ethanol Consumption and Aldehyde Dehydrogenase 2 Deficiency.

ABSTRACT: Aldehyde dehydrogenase 2 (ALDH2) deficiency affects 35% to 45% of East Asians and 8% of the world population. ALDH2 is the second enzyme in the ethanol metabolism pathway. The common genetic variant ALDH2*2 allele has a glutamic acid-to-lysine substitution at position 487 (E487K) that reduces the enzyme activity, resulting in an accumulation of acetaldehyde after ethanol consumption. The ALDH2*2 allele is associated with increased risk of osteoporosis and hip fracture. Our prior study showed that administration of an adeno-associated virus (AAV) serotype rh.10 gene transfer vector expressing the human ALDH2 cDNA (AAVrh.10hALDH2) before initiation of ethanol consumption prevented bone loss in ALDH2-deficient homozygous knockin mice carrying the E487K mutation (Aldh2<

SUBMITTER: Camilleri AE 

PROVIDER: S-EPMC10097638 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature