Caspase-2 deficiency prevents programmed germ cell death resulting from cytokine insufficiency but not meiotic defects caused by loss of ataxia telangiectasia-mutated (Atm) gene function

AbstractWe recently showed that when a low X-ray dose is used, cell death is enhanced in nucleus-irradiated compared with whole-cell-irradiated cells; however, the role of the cytoplasm remains unclear. Here, we show changes in the DNA damage responses with or without X-ray microbeam irradiation of the cytoplasm. Phosphorylated histone H2AX foci, a surrogate marker for DNA double-strand breaks, in V79 and WI-38 cells are not observed in nucleus irradiations at ≤ 2 Gy, whereas they are observed in whole-cell irradiations. Addition of an ataxia telangiectasia mutated (ATM) kinase inhibitor to whole-cell irradiations suppresses foci formation at ≤ 2 Gy. ABL1 and p73 expression is upregulated following nucleus irradiation, suggesting the induction of p73-dependent cell death. Furthermore, CDKN1A (p21) is upregulated following whole-cell irradiation, indicating the induction of cell cycle arrest. These data reveal that cytoplasmic radioresponses modify ATM-mediated DNA damage responses and determine the fate of cells irradiated at low doses.

Download Full-text

Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma

Cancer Biology & Therapy ◽

10.4161/cbt.231 ◽

2003 ◽

Vol 2 (1) ◽

pp. 88-92 ◽

Cited By ~ 9

Author(s):

Peilin Zhang ◽

Kunjan S. Bhakta ◽

Pier Lorenzo Puri ◽

Robert Newbury ◽

James Feramisco ◽

...

Keyword(s):

Gene Mutation ◽

Ataxia Telangiectasia ◽

Ataxia Telangiectasia Mutated ◽

Atm Gene

Download Full-text

Patient with ataxia telangiectasia undergoing elective staging laparoscopy: a case report and literature review

Journal of the Pakistan Medical Association ◽

10.47391/jpma.01740 ◽

2021 ◽

Vol 71 (11) ◽

pp. 2656-2658

Author(s):

Muhammad Adeel Bashir ◽

Huma Saleem

Keyword(s):

Ataxia Telangiectasia ◽

Autosomal Recessive ◽

Perioperative Management ◽

Rare Condition ◽

Staging Laparoscopy ◽

Recurrent Infections ◽

Ataxia Telangiectasia Mutated ◽

Atm Gene ◽

Autosomal Recessive Condition ◽

Insight Into

Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition. Neurological symptoms such as cerebellar ataxia, abnormal eye movements and malignancies occur commonly. Immunodeficiency predisposes these patients to recurrent infections. Perioperative management of patients with this rare condition can be associated with increased morbidity. Therefore, it is recommended that patients with ataxia telangiectasia should be managed in a multidisciplinary center, under the supervision of senior clinicians who have the insight into the clinical needs of such patients. We report herein, the perioperative management of a patient with Ataxia telangiectasia undergoing laparoscopic procedure. Continuous....

Download Full-text