RESUMEN
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.
Asunto(s)
Predisposición Genética a la Enfermedad , Atrofia Muscular/genética , Atrofia Muscular/patología , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Muscular de Emery-Dreifuss/patología , Mutación/genética , Animales , Humanos , Células Musculares/patología , Atrofia Muscular/diagnóstico , Atrofia Muscular/fisiopatología , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismoRESUMEN
The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18) in the emerin gene. The most surprising finding was the appearance of IBM-like inclusions in euchromatin, as well as aberrant nuclei. It may be speculated that altered expression of the emerin-lamin complex and modification of the nuclear matrix leads to formation of tubulofilamentous structures in the presented case.
Asunto(s)
Cuerpos de Inclusión/ultraestructura , Lamina Tipo A/deficiencia , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Muscular de Emery-Dreifuss/metabolismo , Distrofia Muscular de Emery-Dreifuss/patología , Western Blotting , Niño , Preescolar , Análisis Mutacional de ADN , Humanos , Masculino , Proteínas de la Membrana/genética , Microscopía Electrónica de Transmisión , Músculo Esquelético/metabolismo , Músculo Esquelético/ultraestructura , Mutación , Proteínas Nucleares/genética , Reacción en Cadena de la PolimerasaRESUMEN
This paper is a part of an introduction to authors' study on systemic laminopathies and their role in human aging. Of special interest is progeria--a type of systemic laminopathy associated usually with mutation 1824 C > T and presenting phenotype of preliminary aging. The authors analyse the differences between the progeria and other syndrome of preliminary aging--Werner's syndrome.