Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

The finding of shortened telomeres in leukocytes from patients with aplastic anemia prompted a search for mutations in genes that maintain the structure of the telomerase complex. Mutations in TERT, the gene encoding telomerase reverse transcriptase, were found in seven unrelated patients. Mutations in TERT , the gene encoding telomerase reverse transcriptase, were found in seven patients who presented with acquired aplastic anemia. The mutations probably contribute to the cause of aplastic anemia. In aplastic anemia, the bone marrow contains very few hematopoietic cells and consists mainly of fat. The disease can be acquired or constitutional. 1 In most acquired cases, the hematopoietic tissue is the target of an immune process dominated by oligoclonal expansion of type I cytotoxic T cells, which secrete interferon-γ and tumor necrosis factor α and cause hematopoietic cell death by apoptosis. 2 , 3 Acquired aplastic anemia can be successfully treated by allogeneic bone marrow transplantation or immunosuppressive therapy. 4 Fanconi's anemia and dyskeratosis congenita are the most common types of constitutional (congenital) aplastic anemia. 5 X-linked dyskeratosis congenita (Online Mendelian Inheritance in . . .