BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia.

INTRODUCTION: Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and an increased susceptibility to malignancies. This study was designed to study the role of proapoptotic BAK, BAX, and NBK/BIK genes in a group of patients with AT to elucidate the possible role of these genes in progression of malignancies in this disease. MATERIALS AND METHODS: Fifty Iranian patients with AT were investigated in this study. The entire coding regions of the BAK gene (exons 2-6), NBK/BIK gene (exons 2-5), and BAX gene (exons 1-7) were amplified using polymerase chain reaction (PCR). The PCR products were separated by 2% agarose gel electrophoresis, and all positive samples were verified by direct sequencing of PCR products using the same primers used for PCR amplification, BigDye chemistry, and Avent 3100 Genetic Analyzer following the manufacturer's instructions (Applied Biosystems). RESULTS: Eight of fifty Iranian AT patients (16%) exhibited a C > T transition in exon 2 (c342C > T) of the BAK gene, while none of the healthy controls had such alteration (P = 0.0001). Higher frequency of another nucleotide substitution in the noncoding region of exon 7 in BAX gene (6855G > A) was also identified in 68% of the patient group versus 24% in the controls (P < 0.0001). Sequence alteration in intronic region of the NBK/BIK gene IVS4-12delTC was observed in 52% of AT patients, which was significantly higher than 20% in the control group (P = 0.0023). Another variant IVS1146C > T in the intronic region of the BAX gene was found in 78% of patients, which was significantly higher than 10% in the controls (P < 0.0001). Frequency of alteration in intronic region of exon 3 of the BAX gene (IVS3 + 14A > G) was also significantly higher in the AT patients (P < 0.0001). DISCUSSION: Several alterations in the proapoptotic genes BAK, NBK/BIK, and BAX were found in our study, which could elucidate involvement of the mitochondrial pathway mediated apoptosis in accelerating and developing of cancers and in immunopathogenesis of AT. Such altered apoptosis in AT could play some roles in developing cancers in this group of patients.

Quality of life in atopic dermatitis patients.

BACKGROUND AND PURPOSE: Atopic dermatitis (AD) is a common skin condition. The aim of this study was to evaluate the impact of AD on the quality of life of children or adults and to identify the area of patients' lives most affected by the disease. METHODS: Eighty six patients with AD who were referred to an immunology clinic and 98 patients (>4 years old) attending a general clinic acting as controls (without any chronic or severe disease) participated in this survey. A physician filled the Children's Dermatology Life Quality Index (CDLQI) questionnaire for 4-16 year old children and the Dermatology Life Quality Index (DLQI) questionnaire for individuals more than 16 years via face-to-face interview. RESULTS: There were significant differences between the mean of CDLQI score and DLQI score in case and control groups (p<0.001). For children and adults with AD, the mean score of each question was significantly higher than in the control group (p<0.001). CONCLUSIONS: This study agreed with previous findings that AD has a major impact on physical well-being. The individuals dealing with AD and their families need more than just the physical treatment of symptoms. Educational and psychological support for patients and their families in addition to medical treatment of AD may improve their long-term physical outcomes.