000			02100na a2200313 4500
999			_c3166 _d3166
003			PC3166
005			20210625062759.0
008			130622s2013 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9345 _aMartín Casanueva, Miguel Ángel _eBioquímica Clínica
100			_aArenas Barbero, Joaquín _91007 _eInstituto de Investigación
100			_aDelmiro Magdalena, Aitor _92334 _eBioquímica Clínica
100			_aGarcía-Consuegra Galiana, Inés _91867 _eInstituto de Investigación i+12
100			_aMartinez Azorin, Francisco _92420 _eInstituto de Investigación i+12
100			_aMartín Hernández, Elena _91158 _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_aMoreno Izquierdo, Ana _92421 _eGenética
100			_aQuijada Fraile, Pilar _91159 _ePediatría
100			_aRivera Gorrín, Henry _91904 _eInstituto de Investigación i+12
100			_aSimón de las Heras, Rogelio _91347 _eNeurología
100			_aGarcía Silva, María Teresa _9657 _eUnidad de Enfermedades Metabólicas y Mitocondriales
245	0	0	_aWhole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome. _h[artículo]
260			_bHuman Mutation, _c2013
337			_aJOUR
500			_aFormato 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.
501			_aPMID: 24105702
504			_aContiene 25 referencias
520			_aWe 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.
710			_91466 _aServicio de Genética
710			_9446 _aServicio de Pediatría-Neonatología
710			_9317 _aServicio de Bioquímica Clínica
710			_9625 _aInstituto de Investigación imas12
710			_9267 _aServicio de Neurología-Neurofisiología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/3/pc3166.pdf _ySolicitar documento
942			_n0 _2ddc _cART