TY - JOUR
T1 - A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
AU - Ortega-Recalde, Oscar
AU - Fonseca, Dora Janeth
AU - Patiño, Liliana Catherine
AU - Atuesta, Juan Jaime
AU - Rivera-Nieto, Carolina
AU - Restrepo, Carlos Martín
AU - Mateus, Heidi Eliana
AU - van der Knaap, Marjo S.
AU - Laissue, Paul
PY - 2013/11/1
Y1 - 2013/11/1
N2 - NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
AB - NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
U2 - 10.1016/j.mito.2013.03.010
DO - 10.1016/j.mito.2013.03.010
M3 - Research Article
SN - 1567-7249
SP - 749
EP - 754
JO - Mitochondrion
JF - Mitochondrion
ER -
