AI Article Synopsis
- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a rare neurodegenerative condition linked to mutations in the aprataxin (APTX) gene, which plays a key role in repairing DNA damage.
- Patients with EAOH exhibit multiple immunological issues, such as low levels of various T-cells and B-cells, hypogammaglobulinemia, and oligoclonality in T-cell receptor variation, indicating a compromised immune system.
- The study also found that these patients show mild sensitivity to radiation, suggesting that their immune abnormalities may stem from DNA repair problems associated with the disease.
Article Abstract
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patients with EAOH have not been described. In this study, we report that EAOH patients have immunological abnormalities, including lymphopenia; decreased levels of CD4 T-cells, CD8 T-cells, and B-cells; hypogammaglobulinemia; low T-cell recombination excision circles and kappa-deleting element recombination circles; and oligoclonality of T-cell receptor β-chain variable repertoire. These immunological abnormalities vary among the EAOH patients. Additionally, mild radiosensitivity in the lymphocytes obtained from the patients with EAOH was demonstrated. These findings suggested that the immunological abnormalities and mild radiosensitivity evident in patients with EAOH could be probably caused by the DNA repair defects.
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| http://dx.doi.org/10.1016/j.clim.2021.108776 | DOI Listing |
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