Relevance to Autism

Rare de novo variants in the CAT gene have been identified in ASD probands, including a de novo missense variant (p.Gly204Glu) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Yuen et al., 2017). Functional assessment of the ASD-associated p.Gly204Glu missense variant in Drosophila using a rescue-based strategy in Macrogliese et al., 2022 demonstrated that humanized flies carrying the CAT-p.Gly204Glu mutation had significantly decreased lifespan compared with reference animals, indicating a reduced ability to rescue TG4 lethality that was consistent with a loss-of-function effect. Decreased catalase activity in red blood cells from autistic individuals compared to age- and sex-matched normal controls has previously been reported (Zoroglu et al., 2004).

Molecular Function

This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene.

External Links

References