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Mutaciones en SDHD, un gen del complejo II mitocondrial, en el paraganglioma hereditario
B E Baysal1, R E Ferrell, J E Willett-Brozick
1Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213-2593, USA. baysalbe@msx.upmc.edu
Science (New York, N.Y.)
|February 5, 2000
Resumen
Las mutaciones de la línea germinal en el gen SDHD están relacionadas con el paraganglioma hereditario (PGL). Esta investigación pone de relieve el papel de las mitocondrias y la proteína succinato-ubiquinona oxidoreductasa (cybS) en los tumores del cuerpo carotídeo.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Biología mitocondrial Biología mitocondrial
Sus antecedentes:
- El paraganglioma hereditario (PGL) implica tumores benignos, a menudo en el cuerpo carotídeo (CB) de la cabeza y el cuello.
- El CB es un órgano quimiorreceptivo sensible a los niveles de oxígeno en la sangre.
- La comprensión previa de los patrones de herencia de la PGL era incompleta.
Objetivo del estudio:
- Para investigar la base genética del paraganglioma hereditario (PGL).
- Identificar el gen específico responsable de la PGL en las familias afectadas.
- Comprender el papel del gen identificado en el desarrollo del tumor y la fisiología normal.
Principales métodos:
- Análisis genético de familias con paraganglioma hereditario (PGL).
- Cribado de mutación de la línea germinal del gen SDHD en el cromosoma 11q23.3.
- Investigación de los patrones de impresión de genes.
Principales resultados:
- Se identificaron mutaciones de la línea germinal en el gen SDHD en familias con PGL.
- SDHD codifica cybS, una subunidad de la succinato-ubiquinona oxidorreductaza de la cadena respiratoria mitocondrial.
- No se encontró evidencia de impresión genética de SDHD, contrariamente a las expectativas para PGL.
Conclusiones:
- Las mitocondrias están implicadas en la patogénesis de ciertos paragangliomas.
- La proteína cybS, codificada por SDHD, juega un papel en la fisiología normal del cuerpo carotídeo (CB).
- Las mutaciones de SDHD proporcionan una nueva comprensión del desarrollo del paraganglioma hereditario.
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