First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. [caso clínico]
Por: Rodríguez García, María Elena [Instituto de Investigación imas12]
| Martín Hernández, Elena [Unidad de Enfermedades Metabólicas y Mitocondriales] | Martínez de Aragón Calvo, Ana [Radiodiagnóstico] | García Silva, María Teresa [Unidad de Enfermedades Metabólicas y Mitocondriales] | Quijada Fraile, Pilar [Pediatría] | Arenas Barbero, Joaquín [Instituto de Investigación] | Martín, Miguel Ángel [Instituto de investigación imas12] | Martinez Azorin, Francisco [Instituto de Investigación i+12].
Colaborador(es): Instituto de Investigación imas12 | Servicio de Pediatría-Neonatología.
Tipo de material: 
ArtículoEditor: Neurogenetics, 2016Descripción: 17(1):51-6.Recursos en línea: Solicitar documento Resumen: We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.D224G mutation affects the intracellular cholesterol trafficking. Only three missense mutations in this gene have been described before, being p.D224G the first missense mutation outside of the SERAC1 serine-lipase domain. Therefore, we conclude that the defect in cholesterol trafficking is not limited to alterations in this specific part of the protein.
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
|---|---|---|---|---|
Caso clínico
|
PC17836 (Navegar estantería) | Disponible |
Navegando Hospital Universitario 12 de Octubre Estantes Cerrar el navegador de estanterías
Formato Vancouver:
Rodríguez García ME, Martín Hernández E, de Aragón AM, García Silva MT, Quijada Fraile P, Arenas J et al. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. Neurogenetics. 2016 Jan;17(1):51-6.
PMID: 26445863
Contiene 10 referencias
We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.D224G mutation affects the intracellular cholesterol trafficking. Only three missense mutations in this gene have been described before, being p.D224G the first missense mutation outside of the SERAC1 serine-lipase domain. Therefore, we conclude that the defect in cholesterol trafficking is not limited to alterations in this specific part of the protein.
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