APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases.

Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organ systems. It is characterized by the presence of autoantibodies reactive against various self-antigens. Susceptibility to SLE is found to be associated with many major histocompatibility complex (MHC) and non-MHC genes, one of which is APO-1/Fas gene, which is present on chromosome 10 in humans. The APO-1/Fas promoter contains consensus sequences for binding of several transcription factors that affect the intensity of Fas expression in cells. The mutations in the APO-1/Fas promoter are associated with risk and severity in various autoimmune diseases and other malignancies. The APO-1/Fas receptor is expressed by many cell types. Two forms of APO-1/Fas protein that are involved in regulation of apoptosis have been identified. Fas receptor-mediated apoptosis plays a physiological and pathological role in killing of infected cell targets. In this review, we have focused on APO-1/Fas gene structure, promoter variants and its association with SLE and other autoimmune diseases. Functional aspects of Fas receptor in apoptosis are also discussed.

Detection of PTEN immunoreactivity in endometrial hyperplasia and adenocarcinoma.

OBJECTIVE: To investigate PTEN (phosphatase and tensin homolog deleted on chromosome 10) expression in endometrial hyperplasia and adenocarcinoma as analyzed by immunohistochemistry. MATERIAL AND METHOD: PTEN protein expression was evaluated by immunohistrochemical study of 70 paraffin-embedded curettage endometrial tissue samples (10 normal endometrium, 55 endometrial hyperplasia, and 15 endometrial adenocarcinomas) selected from surgical pathology files of the Division of Gynecologic Pathology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, from 2001 to 2004. Intensity of epithelial staining of PTEN immunoreactivity in different histologic types was determined. RESULTS: Absence of PTEN protein expression was detected in 60% of endometrial carcinoma, 60% of atypical endometrial hyperplasia, and 24% of typical endometrial hyperplasia. In endometrial hyperplasia without atypia group, the majority of cases revealed moderate to strong PTEN expression, with 70% in simple hyperplasia and 47% in complex hyperplasia. There is a significant statistical difference of PTEN immunoreactivity among proliferative endometrium, endometrial hyperplasia and endometrial carcinoma group (p = 0.004). CONCLUSION: Complete loss of PTEN protein expression was most commonly found in endometrial carcinoma and hyperplasia with cytologic atypia.

Dubin-johnson syndrome

A young man presented with recurrent episodes of mild jaundice. Apart from conjugated hyperbilirubinemia, other liver function tests were always normal. Clinical suspicion of Dubin-Johnson syndrome was raised. Liver biopsy showed diffuse deposition of coarse granular dark brown pigment in hepatocytes. Dubin-Johnson syndrome is a benign condition, which results from a hereditary defect in biliary secretion of bilirubin pigments, and manifests as recurrent jaundice with conjugated hyperbilirubinemia. The defect is due to the absence of the canalicular protein MRP2 located on chromosomes 10q 24, which is responsible for the transport of biliary glucuronides and related organic anions into bile. No treatment is necessary and patients have a normal life expectancy

Genetics and bioinformatics of primary open angle glaucoma: an Indian perspective.

Glaucoma is the second largest blinding disorder, after cataract, affecting about 67 million people worldwide. In India about 1.5 million people are blind due to glaucoma. Primary open angle glaucoma is the major sub-type of glaucoma affecting all ages and is genetically complex. Myocilin and optineurin are two different genes that have been implicated for primary open angle glaucoma. This review is focused on the studies being conducted in India on primary open angle glaucoma to identify the molecular defects and new directions undertaken using bioinformatic approaches towards a better understanding of the disease.

Adolescente con Tetrasomía del X e inversión del cromosoma 9: reporte de un caso / Adolescent with X Tretrasomies inversion of the chromosome 9: report a case

Las terasomías del cromosoma X son complementos cromosómicos raros no asociados a un cuadro clínico específico pero la mayoría de los pacientes con esta polisomía del X presentan retardo en el aprendizaje, inmadurez emocional y disfunción gonadal. En el presente trabajo, se describen los hallazgos clínicos y citogenéticos en una paciente con amenorrea primaria, retardo psicomotor, inmadurez emocional y cariotipo 48, XXXX, inv (9). Aunque es difícil correlacionar los cromosomas X supernumerarios en esta paciente con la inversión del cromosoma 9 heredada del padre, el presente caso parece ser, hasta donde sabemos, la primera tetrasomía del X asociada a una inversión pericentromérica del cromosoma 9. Las tetrasomías del X podrían originarse por dos errores no-disyuncionales sucesivos ocurridos posiblemente en la gametogénesis materna

Maternal inheritance of a 10/15 translocation in a female with a history of obstetric problems

O cariótipo 46,XX, -10, -15, t(10;15) (p15;q22) foi observado em uma cultura de linfócitos de uma mulher indiana com múltiplos abortos. Anormalidades cromossômicas similares estavam presentes em sua mäe, um irmäo e três irmäs. Ascite, cianose e problemas hepato-renais presentes nas três filhas talvez sejam decorrentes de tais rearranjos cromossômicos.