El canal de cloruro del músculo esquelético en la miotonia humana dominante y recesiva
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M C Koch1, K Steinmeyer, C Lorenz
1Medical Center for Human Genetics, Marburg University, Germany.
Science (New York, N.Y.)
|August 7, 1992
Resumen
Las mutaciones genéticas en el canal de cloruro CLC-1 causan formas dominantes y recesivas de miotonía. La investigación identificó una mutación específica del CLC-1 vinculada a Becker.
Área de la Ciencia:
- Genética molecular genética molecular.
- Fisiología humana fisiología humana.
- Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares Trastornos neuromusculares
Sus antecedentes:
- La myotonia generalizada autosómica recesiva (enfermedad de Becker) y la myotonia congénita autosómica dominante (enfermedad de Thomsen) se manifiestan como rigidez del músculo esquelético debido a la hiperexcitabilidad de la membrana.
- Las corrientes alteradas de cloruro muscular o sodio están implicadas en estos trastornos miotónicos.
Objetivo del estudio:
- Investigar la base genética de la myotonia generalizada (GM) y la myotonia congénita (MC).
- Para identificar el gen específico y las mutaciones responsables de estas canalopatías de cloruro muscular.
Principales métodos:
- Clonado del canal de cloruro del músculo esquelético humano (CLC-1) ADN complementario.
- Localización física del gen CLC-1 en el cromosoma 7 y análisis de vinculación con el locus TCRB.
- Análisis genético de familias alemanas con GM y MC, incluido el análisis del sitio de restricción para identificar mutaciones.
Principales resultados:
- El gen CLC-1 se localizó en el cromosoma 7 y se encontró que está estrechamente vinculado a GM y MC en familias alemanas.
- Se identificó una mutación específica (sustitución de fenilalanina por cisteína en el dominio transmembrana D8 del CLC-1) en dos familias de transgénicos.
- Esta mutación se asoció con la miotonía generalizada autosómica recesiva.
Conclusiones:
- El gen CLC-1 está implicado tanto en las formas autosómicas dominantes como en las recesivas de la miotonía.
- Diferentes mutaciones dentro del gen CLC-1 probablemente conduzcan a patrones de herencia distintos y presentaciones clínicas de miotonia congénita.
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