• Vol 9 • May 2007 406 Ataxia-telangiectasia is a rare autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infection – all due to immune defects, and a high incidence of mainly B lymphoid malignancy [1]. Ataxiatelangiectasia results from mutations in a single gene, ataxia telangiectasia mutated (ATM). Th...

La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado neoplasias o sin telangiectasias óculo-cutáneas. AT causada variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa la sospecha un cuadro clínico compatible,...

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 involved DNA single-strand break repair (SSBR). The neurological abnormalities associated EAOH are similar to those observed patients ataxia-telangiectasia. However, immunological have not been described. In this study, we rep...

Ataxia-telangiectasia mutated (ATM) kinase, the mutation of which causes the autosomal recessive disease ataxia-telangiectasia, plays an essential role in the maintenance of genome stability. Extensive studies have revealed that activated ATM signals to a massive list of proteins to facilitate cell cycle checkpoints, DNA repair, and many other aspects of physiological responses in the event of ...

The KARP-1 (Ku86 Autoantigen Related Protein-1) gene, which is expressed from the human Ku86 autoantigen locus, appears to play a role in mammalian DNA double-strand break repair as a regulator of the DNA-dependent protein kinase complex. Here we demonstrate that KARP-1 gene expression is significantly up-regulated following exposure of cells to DNA damage. KARP-1 mRNA induction was completely ...

An undifferentiated lymphocytic lymphoma of mesenteric lymph nodes occurred in a young boy with ataxia-telangiectasia. Two independent tests, Epstein-Barr virus (EBV)-cRNA/DNA hybridisation and EBV DNA/DNA reassociation kinetic analysis, showed 53 and 68 EBV genome equivalents per cell respectively, which was compatible with an EBV-genome-carrying tumour. Whether this was a polyclonal lymphopro...

A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the disrupted Atm allele displayed growth retardation, neurologic dysfunction, male and female infertility secondary to the absence of mature gametes, defects in T lymphocyte maturation, and extreme sensitivity to gamma-irradiation. The majority of animals developed malignant ...