A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Détails
ID Serval
serval:BIB_569513F9BB92
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Poster: résume de manière illustrée et sur une page unique les résultats d'un projet de recherche. Les résumés de poster doivent être entrés sous "Abstract" et non "Poster".
Collection
Publications
Institution
Titre
A NOVEL MUTATION IN BCS1L IN A PATIENT WITH AN ISOLATED MITOCHONDRIAL COMPLEX III DEFICIENCY
Titre de la conférence
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Adresse
Geneva, Switzerland, August 30-September 2, 2011
ISBN
0141-8955
Statut éditorial
Publié
Date de publication
2011
Volume
34
Série
Journal of Inherited Metabolic Diseases
Pages
S163
Langue
anglais
Notes
Document Type:Meeting Abstract
Résumé
Background: Isolated complex III deficiencies are caused by mutations in
the mitochondrial CytB gene, in the BCS1L gene coding for a CIII
assembly factor and in the UQCRQ gene that codes for the ubiquinone
binding protein of complex III.
Objective: Description of clinical features, mitochondrial function and
molecular genetic analysis in a patient with an isolated complex III deficiency.
Patient: A 17 year old boy, born to consanguineous parents who presented
with hypoglycemia, glycosuria, deafness, growth retardation, Fanconi
Syndrome and severe lactic acidosis in the neonatal period.
Methods: Activities and assembly of OXPHOS complexes were investigated
spectrophotometrically and by BN-PAGE. mt-DNAwas screened for
deletions. Cytochrome b (CytB) and the BCS1L gene were sequenced.
Results: Isolated complex III deficiency was detected in the patient's
skeletal muscle. Using BN-PAGE blotting a complex III of lower
molecular weight was detected. Staining the 2D reveals a missing subunit.
No mutation was detected in the mitochondrial CytB gene. Sequence
analysis of BCS1L revealed a novel homozygous point mutation p.M48V.
Conclusion: The patients decreased complex III activity is most likely
caused by incomplete assembly of complex III due to the homozygous p.
M48V mutation in the BCS1L gene.
the mitochondrial CytB gene, in the BCS1L gene coding for a CIII
assembly factor and in the UQCRQ gene that codes for the ubiquinone
binding protein of complex III.
Objective: Description of clinical features, mitochondrial function and
molecular genetic analysis in a patient with an isolated complex III deficiency.
Patient: A 17 year old boy, born to consanguineous parents who presented
with hypoglycemia, glycosuria, deafness, growth retardation, Fanconi
Syndrome and severe lactic acidosis in the neonatal period.
Methods: Activities and assembly of OXPHOS complexes were investigated
spectrophotometrically and by BN-PAGE. mt-DNAwas screened for
deletions. Cytochrome b (CytB) and the BCS1L gene were sequenced.
Results: Isolated complex III deficiency was detected in the patient's
skeletal muscle. Using BN-PAGE blotting a complex III of lower
molecular weight was detected. Staining the 2D reveals a missing subunit.
No mutation was detected in the mitochondrial CytB gene. Sequence
analysis of BCS1L revealed a novel homozygous point mutation p.M48V.
Conclusion: The patients decreased complex III activity is most likely
caused by incomplete assembly of complex III due to the homozygous p.
M48V mutation in the BCS1L gene.
Création de la notice
14/02/2014 18:27
Dernière modification de la notice
20/08/2019 15:10
Données d'usage
