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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Lookup NU author(s): Dr Charlotte Alston, Professor Robert Taylor


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Mutations in NFU1 were recently identified in patients with fatal encephalopathy. NFU1 is an iron-sulfur cluster protein necessary for the activity of the mitochondrial respiratory chain complexes I-II and the synthesis of lipoic acid. We report two NFU1 compound heterozygous individuals with normal complex I and lipoic acid-dependent enzymatic activities and low, but detectable, levels of lipoylated proteins. We demonstrated a leaky splicing regulation due to a splice site mutation (c545 + 5G > A) that produces small amounts of wild type NFU1 mRNA that might result in enough protein to partially lipoylate and restore the activity of lipoic add-dependent enzymes and the assembly and activity of complex I. These results allowed us to gain insights into the molecular basis underlying this disease and should be considered for the diagnosis of NFU1 patients. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Publication metadata

Author(s): Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, Garcia-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2016

Volume: 26

Pages: 72-80

Print publication date: 01/01/2016

Online publication date: 11/12/2015

Acceptance date: 10/12/2015

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier BV


DOI: 10.1016/j.mito.2015.12.004


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Funder referenceFunder name
Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), an initiative of Instituto de Salud Carlos III (Ministerio de Ciencia e Innovacion, Spain)
Lily Foundation
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
FIS PI12/01138Instituto de Salud Carlos III
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease Research
NIHR-HCS-D12-03-04National Institute for Health Research (NIHR) doctoral fellowship
SGR393Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR)