Aminoacylase-1 (ACY1) mRNA (ACY1 mRNA)

Aminoacylase-1 (ACY1) mRNA is the messenger RNA transcript that encodes the ACY1 enzyme, a zinc-dependent metalloenzyme primarily expressed in the kidney and liver (UniProt P17735). The encoded enzyme is responsible for the deacetylation of N-acylated L-amino acids, a critical step in the salvage of amino acids and the catabolism of N-acetylated proteins (NCBI Gene 95). Mutations in the ACY1 gene result in Aminoacylase-1 deficiency, a rare autosomal recessive metabolic disorder characterized by the accumulation of N-acetylated amino acids in the urine (OMIM 609924). While some individuals with this deficiency are asymptomatic, others present with neurological symptoms such as seizures, muscular hypotonia, and developmental delay (PubMed 15643614). In oncology, ACY1 mRNA expression is often significantly reduced in various cancers, including small cell lung cancer and renal cell carcinoma, where it is thought to function as a tumor suppressor (PubMed 22521651). As a therapeutic target, ACY1 mRNA is a candidate for mRNA replacement therapies aimed at restoring functional enzyme levels in deficient patients. Additionally, research into RNA-based modulation seeks to understand its role in tumor progression and potential for therapeutic reactivation. Current challenges in targeting ACY1 mRNA include the development of efficient delivery systems, such as lipid nanoparticles, and minimizing the innate immune response to exogenous RNA (PubMed 31073511).

Other names

N-acyl-L-amino acid amidohydrolase mRNAACY-1 mRNAACY1 transcript

mRNA replacement therapy to restore enzyme function; RNA interference for research or potential oncogenic inhibition