Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation
Journal Title: Sultan Qaboos University Medical Journal - Year 2018, Vol 1, Issue 4
Abstract
Objectives: Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder characterised by cerebellar degeneration, telangiectasia, radiation sensitivity, immunodeficiency, oxidative stress and cancer susceptibility. Epidemiological research has shown that carriers of the heterozygous ataxia-telangiectasia mutated (ATM) gene mutation are radiosensitive to ionising irradiation and have a higher risk of cancers, type 2 diabetes and atherosclerosis. However, there is currently no fast and reliable laboratory-based method to detect heterozygous ATM carriers for family screening and planning purposes. This study therefore aimed to evaluate the ability of a modified G2-assay to identify heterozygous ATM carriers in the families of A-T patients. Methods: This study took place at the Tehran University of Medical Sciences, Tehran, Iran, between February and December 2017 and included 16 A-T patients, their parents (obligate heterozygotes) and 30 healthy controls. All of the subjects underwent individual radiosensitivity (IRS) assessment using a modified caffeine-treated G2-assay with G2-checkpoint abrogation. Results: The mean IRS of the obligate ATM heterozygotes was significantly higher than the healthy controls (55.13% ± 5.84% versus 39.03% ± 6.95%; P <0.001), but significantly lower than the A-T patients (55.13% ± 5.84% versus 87.39% ± 8.29%; P = 0.001). A receiver operating characteristic (ROC) curve analysis of the G2-assay values indicated high sensitivity and specificity, with an area under the ROC curve of 0.97 (95% confidence interval: 0.95–1.00). Conclusion: The modified G2-assay demonstrated adequate precision and relatively high sensitivity and specificity in detecting heterozygous ATM carriers.
Authors and Affiliations
Asghar Aghamohammadi, Seyed M. Akrami, Marjan Yaghmaie, Nima Rezaei, Gholamreza Azizi, Mehdi Yaseri, Hassan Nosrati, Majid Zaki-Dizaji
Keywords
Related Articles
- EP ID EP37470
- DOI http://dx.doi.org/10.18295/squmj.2018.18.04.003
- Views 265
- Downloads 0
Use of Cone-Beam Computed Tomography in the Diagnosis and Treatment of an Unusual Canine Abnormality
Diagnosis and treatment planning are important for successful endodontic treatment. We report a 24-year old male who presented to the Government Dental College in Kozhikode, Kerala, India, in 2015 with pain in his righ...
Re: Child Rights What can we do in Oman?
Insulin Resistance and its Correlation with Risk Factors for Developing Diabetes Mellitus in 100 Omani Medical Students
Objectives: Te aim of this study was to assess the prevalence of insulin resistance (IR) in healthy young Omanis and relate this with their body mass index (BMI) and family history (FH) of diabetes mellitus (DM). Metho...
MEDLINE® Indexing of the Sultan Qaboos University Medical Journal A great leap forward for biomedical research and publishing in the Gulf region
Uterine Pseudoaneurysm: A rare cause of delayed postpartum haemorrhage managed with uterine artery embolisation
MEDICAL IMAGE