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Vinculación de la diabetes tipo 2 con el gen de la glucokinasa
A T Hattersley1, R C Turner, M A Permutt
1Nuffield Department of Clinical Medicine, Radcliffe Infirmary, Oxford, UK.
Lancet (London, England)
|May 30, 1992
Resumen
La diabetes juvenil con inicio en la madurez (MODY) está vinculada al gen de la glucokinasa en una familia, lo que sugiere que un gen defectuoso contribuye a la diabetes tipo 2. Sin embargo, este vínculo genético no se encontró en otra familia MODY estudiada.
Área de la Ciencia:
- Genética La genética.
- Endocrinología Endocrinología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La diabetes de inicio en la madurez de los jóvenes (MODY) es una forma monogénica de diabetes con herencia autosómica dominante.
- La glucoquinasa (GCK) es un regulador clave de la secreción de insulina y un gen candidato para la diabetes.
- Investigar los defectos genéticos en MODY es crucial para comprender la patogénesis de la diabetes.
Objetivo del estudio:
- Para investigar el papel del gen glucokinasa en dos pedigríes MODY distintos.
- Para determinar si las mutaciones en el gen de la glucokinasa son una causa común de MODY.
Principales métodos:
- El análisis de polimorfismo de microsatélites se utilizó para evaluar la vinculación.
- El análisis de vínculo genético se realizó a lo largo de cinco generaciones en pedigrí BX.
- El análisis de vinculación también se llevó a cabo en un segundo pedigrí MODY (M).
Principales resultados:
- Se identificó la vinculación de la diabetes con el locus de la glucokinasa en el cromosoma 7p en el pedigrí BX (puntuación de log = 4,60).
- Se sugiere que un gen de glucokinasa defectuoso contribuye al fenotipo de la diabetes en el pedigrí BX.
- Se excluyó la vinculación con el locus de la glucokinasa en el pedigrí M (puntuación de lód = -7.36).
Conclusiones:
- Los defectos en el gen de la glucokinasa pueden contribuir a la patogénesis de MODY y potencialmente a la diabetes tipo 2.
- La base genética de MODY es heterogénea, y el gen de la glucoquinasa no está universalmente implicado.
- Una mayor investigación sobre los defectos genéticos es esencial para comprender las diversas formas de diabetes.
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