A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Oscar Ortega-Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera-Nieto, Carlos Martín Restrepo, Heidi Eliana Mateus, Marjo S. van der Knaap, Paul Laissue

Resultado de la investigación: Contribución a RevistaArtículo

9 Citas (Scopus)

Resumen

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.
Idioma originalEnglish (US)
Páginas (desde-hasta)749-754
Número de páginas6
PublicaciónMitochondrion
DOI
EstadoPublished - nov 1 2013

Huella dactilar

Mitochondrial Diseases
Mutation
Nonsense Codon
Missense Mutation
Computational Biology
Energy Metabolism
Mitochondria
Phenotype
Messenger RNA
Research

Citar esto

Ortega-Recalde, O., Fonseca, D. J., Patiño, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., ... Laissue, P. (2013). A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion, 749-754. https://doi.org/10.1016/j.mito.2013.03.010
Ortega-Recalde, Oscar ; Fonseca, Dora Janeth ; Patiño, Liliana Catherine ; Atuesta, Juan Jaime ; Rivera-Nieto, Carolina ; Restrepo, Carlos Martín ; Mateus, Heidi Eliana ; van der Knaap, Marjo S. ; Laissue, Paul. / A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. En: Mitochondrion. 2013 ; pp. 749-754.
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title = "A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations",
abstract = "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. {\circledC} 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.",
author = "Oscar Ortega-Recalde and Fonseca, {Dora Janeth} and Pati{\~n}o, {Liliana Catherine} and Atuesta, {Juan Jaime} and Carolina Rivera-Nieto and Restrepo, {Carlos Mart{\'i}n} and Mateus, {Heidi Eliana} and {van der Knaap}, {Marjo S.} and Paul Laissue",
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Ortega-Recalde, O, Fonseca, DJ, Patiño, LC, Atuesta, JJ, Rivera-Nieto, C, Restrepo, CM, Mateus, HE, van der Knaap, MS & Laissue, P 2013, 'A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations', Mitochondrion, pp. 749-754. https://doi.org/10.1016/j.mito.2013.03.010

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. / Ortega-Recalde, Oscar; Fonseca, Dora Janeth; Patiño, Liliana Catherine; Atuesta, Juan Jaime; Rivera-Nieto, Carolina; Restrepo, Carlos Martín; Mateus, Heidi Eliana; van der Knaap, Marjo S.; Laissue, Paul.

En: Mitochondrion, 01.11.2013, p. 749-754.

Resultado de la investigación: Contribución a RevistaArtículo

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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.

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DO - 10.1016/j.mito.2013.03.010

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SN - 1567-7249

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