Naa10-KO Mouse

Naa10, also known as N-α -acetyltransferase 10, is the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. It acetylates both N-terminal amino acid and internal lysine residues of proteins, playing a crucial role in multiple biological processes such as cell proliferation, migration, differentiation, apoptosis, and autophagy. Naa10-related pathways are involved in protein Nt-acetylation, which affects about 80% of cytosolic proteins in humans [1,3].

Genetic variations in Naa10 are associated with an X-linked Naa10-related syndrome. This syndrome has a broad phenotypic spectrum including variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities. Females with the p.Arg83Cys missense in Naa10 have substantial impairment, while frameshift variants toward the C-terminal end have less impact on overall functioning [1,2]. Additionally, Naa10 is overexpressed in various cancers like liver, bone, lung, breast, colon, and prostate cancers, correlating with vascular invasion, metastasis, and influencing cancer patients' survival rates and disease recurrence [3].

In conclusion, Naa10 is essential for protein acetylation and involved in diverse biological processes. Studies of Naa10-related genetic variations in humans have revealed its significance in neurodevelopmental syndromes. Its overexpression in cancer highlights its potential as a biomarker for cancer prognosis. These findings from human-based research models contribute to understanding the role of Naa10 in specific disease areas such as neurodevelopmental disorders and cancer [1-3].

References:

1. Lyon, Gholson J, Vedaie, Marall, Beisheim, Travis, Marmorstein, Ronen, Herr-Israel, Ellen. 2023. Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. In European journal of human genetics : EJHG, 31, 824-833. doi:10.1038/s41431-023-01368-y. https://pubmed.ncbi.nlm.nih.gov/37130971/

2. Wu, Yiyang, Lyon, Gholson J. 2018. NAA10-related syndrome. In Experimental & molecular medicine, 50, 1-10. doi:10.1038/s12276-018-0098-x. https://pubmed.ncbi.nlm.nih.gov/30054457/

3. Kim, Sun Myung, Ha, Eunyoung, Kim, Jinyoung, Shin, So-Jin, Seo, Ji Hae. 2020. NAA10 as a New Prognostic Marker for Cancer Progression. In International journal of molecular sciences, 21, . doi:10.3390/ijms21218010. https://pubmed.ncbi.nlm.nih.gov/33126484/