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Ataxia telangiectasia

Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At early age, the child's walking becomes wobbley, at teens handicapped-bound and at the early 20s, it becomes fatal. more...

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AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction (Boder, 1958). AT patients are significantly predisposed to cancer, particularly lymphomas and leukemia. Other manifestations of the disease include sensitivity to ionizing radiation (Taylor et al., 1975), premature aging, and hypogonadism (Regueiro et al., 2000). AT has been a major interest of scientists since the 1960's because it may yield an insight into numerous other major health problems, such as cancer, neurological disease, immunodeficiency, and aging (Lederman, 2000).

The responsible gene in AT, ataxia-telangiectasia mutated (ATM), was discovered in 1995 by Savitsky et al., a team led by Yosef Shiloh of Tel Aviv University in Israel. Researchers linked the hyper-sensitivity of AT patients to ionizing radiation (IR) and predisposition to cancer to "chromosomal instability, abnormalities in genetic recombination, and defective signaling to programmed cell death and several cell cycle checkpoints activated by DNA damage"; (Canman, 1998). Earlier observations predicted that the gene altered in AT played a role in DNA damage recognition. These predictions were confirmed when a single gene on chromosome 11 (11q 22-23) was discovered (Savitsky et al., 1995, Gatti et al., 1982). Since its discovery, the protein product of the ATM gene has been shown to be a part of eukaryotic cell cycle control, DNA repair, and DNA recombination (Lavin, 2004).

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ATM Linked to Ataxia-Telangiectasia
From Applied Genetics News, 12/1/00

Michael B. Kastan, chairman of the department of hematology oncology at St. Jude Research Hospital (332 N. Lauderdale, Memphis TN 38105-2729; Tel: 901/495-3300) and Da-Qing Yang, a postdoctoral fellow, discovered a potentially important new role of the ATM protein that may shed light on some of the myriad physiologic problems found in patients with the genetic disease Ataxia- Telangiectasia (A-T). These findings are published in the December issue of the journal Nature Cell Biology.

A-T is a rare and tragic, inherited disorder characterized by a high incidence of cancer and hypersensitivity to radiation and some chemotherapy treatments. In addition, this disorder affects many different organ systems within the body, including a progressive neurologic degeneration that makes the patients wheelchair-bound as children. ATM is the gene mutated in the disorder A-T.

The researchers discovered that ATM protein participates in insulin-signaling in cells. ATM was previously known to be involved in repairing DNA damaged by radiation. The new function of ATM may help researchers explain other problems that these patients have, including metabolic problems.

"Our next step is to further characterize what cells in the body are dependent on ATM for insulin responses and determine what impact it has on physiologic processes, such as glucose metabolism, blood vessel formation, cell growth, body growth and development, and fat cell metabolism," Kastan says.

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