Important note: Information in this article was accurate in 2000. The state of the art may have changed since the publication date.
Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM protein.
J Investig Allergol Clin Immunol. 2000 Jan-Feb;10(1):36-40. Unique Identifier : AIDSLINE MED/20241710 Fukao T; Yoshida T; Kaneko H; Song XQ; Tashita H; Teramoto T; Inoue R; Watters D; Lavin M; Kondo N; Department of Pediatrics, Gifu University School of Medicine,; Japan.
Abstract:
Ataxia-telangiectasia (A-T) is a genetic disorder characterized by a progressive ataxia, immunodeficiency, neurological abnormalities, hypersensitivity to ionizing radiation, and predisposition to cancer. The gene responsible for A-T (ATM) has been cloned and shown to code for a 350 kDa polypeptide containing 3,056 amino acid residues. Detection of ATM mutations for laboratory diagnosis of A-T is laborious and not practical, unless there are common mutations in a population. We describe here immunoblot analysis for the detection of ATM in seven Japanese A-T patients from five families and in controls using ATM3BA antibody. ATM protein was routinely and clearly detected in Epstein-Barr virus (EBV)-transformed or phytohemagglutinin (PHA)-stimulated lymphoblasts from controls. However, it could not be detected consistently in unstimulated peripheral blood mononuclear cells (PBMCs) from controls. We also detected ATM protein in control fibroblasts, but the background was relatively higher than in control lymphoblasts. ATM protein was not detected or dramatically decreased in EBV-transformed lymphoblasts from all seven patients tested and in fibroblasts from one patient. Immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblasts represents a useful approach for laboratory diagnosis for A-T. The latter is especially preferable since it takes only 3 days to obtain sufficient cells for analysis.
Keywords: JOURNAL ARTICLE Adult Ataxia Telangiectasia/*BLOOD Cell Line, Transformed Cells, Cultured Child Female Herpesvirus 4, Human Human Immunoblotting/METHODS Laboratories Leukocytes, Mononuclear/CHEMISTRY/CYTOLOGY Male Mitogens/PHARMACOLOGY Phytohemagglutinins/PHARMACOLOGY Protein-Serine-Threonine Kinases/*ANALYSIS Support, Non-U.S. Gov't
AEGiS is a 501(c)3, not-for-profit, tax-exempt, educational corporation. AEGiS is made possible through unrestricted funding from
Elton John AIDS Foundation,
the National Library of Medicine,
and donations from users like you. Always watch for outdated information. This article first appeared in 2000. This material is designed to support, not replace, the relationship that exists between you and your doctor.
AEGiS presents published material, reprinted with permission and neither endorses nor opposes any material. All information contained on this website, including information relating to health conditions, products, and treatments, is for informational purposes only. It is often presented in summary or aggregate form. It is not meant to be a substitute for the advice provided by your own physician or other medical professionals. Always discuss treatment options with a doctor who specializes in treating HIV.
Important note: Information in this article was accurate in 2000. The state of the art may have changed since the publication date.
