Hamartin and Tuberin Expression in Human Tissues
| Autor: | Marissa Li, Christopher Kerfoot, Theodore Bushnell, Harry V. Vinters, Michael W. Johnson |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Cell type Pathology medicine.medical_specialty Blotting Western Population Gestational Age Biology Tuberous Sclerosis Complex 1 Protein Pathology and Forensic Medicine Tuberous sclerosis Fetus Tuberous Sclerosis Tuberous Sclerosis Complex 2 Protein medicine Humans Genes Tumor Suppressor Tissue Distribution Child Fluorescent Antibody Technique Indirect education Cells Cultured education.field_of_study Tumor Suppressor Proteins Infant Newborn Infant Proteins Autosomal dominant trait medicine.disease Repressor Proteins medicine.anatomical_structure Child Preschool Immunohistochemistry TSC1 TSC2 Immunostaining |
| Zdroj: | Modern Pathology. 14:202-210 |
| ISSN: | 0893-3952 |
| Popis: | Tuberous sclerosis (TSC) is a bigenic autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, TSC1 and TSC2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin. We report the results of an immunohistochemical study of the expression of the TSC gene products, tuberin and hamartin, in multiple tissues obtained at autopsy from 12 non-TSC affected patients ranging in age from 20 weeks gestation to 8 years, and surgical specimens from some organs. Tuberin and hamartin are expressed and are colocalized in most tissues. Contrary to a previous report, immunostaining with our antisera detected hamartin in liver, small and large intestine, prostate, and testes. We did not detect significant developmental differences in tuberin or hamartin expression in comparable tissues from patients of different ages. Although tuberin and hamartin colocalize in most tissues and cell types, we provide data that hamartin is more abundantly expressed than tuberin in cells within some tissues including the distal nephron and a population of cells of the endocrine pancreas. These data support the hypothesis that hamartin and tuberin interact and may function together in many tissues where they are co-expressed, but also suggest that hamartin has a discrete and specialized function in certain cell types. |
| Databáze: | OpenAIRE |
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