Producción CyT
Congreso
Autoría
Armando RG,
;
GOMEZ, DANIEL EDUARDO
Fecha
2016
Editorial y Lugar de Edición
Spandidos Publication
Resumen
Información suministrada por el agente en
SIGEVA
Is well known the role that telomerase play in cancer, however a constellation of related genetic diseases are caused by defects in the telomere maintenance machinery. These disorders, often referred as telomeropathies, share symptoms and molecular mechanisms, and mounting evidence indicates they are points along a spectrum of disease. The first telomeropathy described is a disease-associated with mutations in human dyskerin identified in patients afflicted with a rare, multi-system disorder ca...
Is well known the role that telomerase play in cancer, however a constellation of related genetic diseases are caused by defects in the telomere maintenance machinery. These disorders, often referred as telomeropathies, share symptoms and molecular mechanisms, and mounting evidence indicates they are points along a spectrum of disease. The first telomeropathy described is a disease-associated with mutations in human dyskerin identified in patients afflicted with a rare, multi-system disorder called dyskeratosis congenita (DKC). More recently, telomerase mutations have been detected in the context of aplastic anemia, Hoyeraal Hreidarsson syndrome (HHS) and idiopatyc pulmonary fibrosis, Revesz syndrome, and Coat Plus Syndrome. The clinical manifestations of dyskeratosis congenita generally appear during childhood and include a monocutaneous triad of abnormal skin pigmentation, nail dystrophy and oral leukoplasia. The symptoms are accompanied by a spectrum of other somatic abnormalities such as developmental delay, premature hair loss and organ failure. HHS syndrome is an especially severe form of DKC, with the addition of intrauterine growth retardation, bone marrow failure, immunodeficiency, cerebellar hypoplasia, and microcephaly. Revesz syndrome is characterized by symptoms of HHS with the addition of exudative retinopathy. Coat Plus syndrome may exhibit symptoms of HHS and Revesz syndrome, with the addition of cerebral calcifications. Presently, it is difficult to distinguish HHS, Revesz and Coat Plus syndromes due to the incomplete penetrance of the symptoms and the very low number of cases. Because of the overlapping symptoms and causes of these disorders, it is likely that they represent a single disease entity with multiple genetic mechanisms for the same pathological conditions and not three distinct disorders. Aplastic anemia is a hematological disorder characterized by reduced red blood cell counts, bone marrow failure and liver and lung disease. Idiopathic pulmonary fibrosis is a chronic, progressive, and fatal disease that is defined by progressive failure of the lung coincident with fibrosis and inflammation. In addition, we have secondary telomeropathies because it is not known yet if the reported telomere dysfunction is the cause or just one of the effects of the diseases. Probably, in the future new syndromes will be revealed having a relationship with telomere dysfunction, describing the wide spectrum that these may diseases represent.
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Palabras Clave
TelomeropatieDiseaseGenetic