ATP-dependent RNA helicase DHX30

DHX30 is an ATP-dependent RNA helicase that catalyzes RNA unwinding and plays a critical role in assembly of the mitochondrial large ribosomal subunit (UniProt: Q7L2E3). The protein also associates with mitochondrial DNA and contributes to nervous system development by regulating genes essential for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD.

DHX30 is expressed in mitochondria-rich tissues and is linked to neurodevelopmental function. Pathogenic variants cause neurodevelopmental disorder with variable motor and language impairment (NEDMIAL), an autosomal dominant condition characterized by developmental delay, intellectual disability, and speech impairment (UniProt: Q7L2E3).

In Alzheimer's disease, DHX30 is downregulated in post-mortem brain tissue compared to age-matched controls (Chaparral AD proteomics), with a mean log2 fold-change of −0.35 across measured fractions. This reduction may reflect compromised mitochondrial ribosome function and impaired neurogenic capacity in the AD brain.