02100na a2200313 4500
3166
3166
PC3166
20210625062759.0
130622s2013 xxx||||| |||| 00| 0 eng d
H12O
eng
345
Martín Casanueva, Miguel Ángel
Bioquímica Clínica
Arenas Barbero, Joaquín
1007
Instituto de Investigación
Delmiro Magdalena, Aitor
2334
Bioquímica Clínica
García-Consuegra Galiana, Inés
1867
Instituto de Investigación i+12
Martinez Azorin, Francisco
2420
Instituto de Investigación i+12
Martín Hernández, Elena
1158
Unidad de Enfermedades Metabólicas y Mitocondriales
Moreno Izquierdo, Ana
2421
Genética
Quijada Fraile, Pilar
1159
Pediatría
Rivera Gorrín, Henry
1904
Instituto de Investigación i+12
Simón de las Heras, Rogelio
1347
Neurología
García Silva, María Teresa
657
Unidad de Enfermedades Metabólicas y Mitocondriales
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome.
[artículo]
Human Mutation,
2013
JOUR
Formato Vancouver:
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P et al. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat. 2013 Dec;34(12):1623-7.
PMID: 24105702
Contiene 25 referencias
We describe a West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome. The mitochondrial respiratory chain of the patient showed a simple complex I deficiency in fibroblasts. Whole-exome sequencing (WES) uncovered two heterozygous mutations in NDUFV2 gene that were reassigned to a pseudogene. With the WES data, it was possible to obtain whole mitochondrial DNA sequencing and to identify a heteroplasmic variant in the MT-ND1 (MTND1) gene (m.3946G>A, p.E214K). The expression of the gene in patient fibroblasts was not affected but the protein level was significantly reduced, suggesting that protein stability was affected by this mutation. The lower protein level also affected assembly of complex I and supercomplexes (I/III2/IV and I/III2), leading to complex I deficiency. While ATP levels at steady state under stress conditions were not affected, the amount of ROS produced by complex I was significantly increased.
1466
Servicio de Genética
446
Servicio de Pediatría-Neonatología
317
Servicio de Bioquímica Clínica
625
Instituto de Investigación imas12
267
Servicio de Neurología-Neurofisiología
http://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/3/pc3166.pdf
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2018-11-02
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2018-11-02
2018-11-02
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