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Torraco, A.* ; Nasca, A.* ; Verrigni, D.* ; Pennisi, A.* ; Zaki, M.S.* ; Olivieri, G.* ; Assouline, Z.* ; Martinelli, D.* ; Maroofian, R.* ; Rizza, T.* ; Di Nottia, M.* ; Invernizzi, F.* ; Lamantea, E.* ; Longo, D.* ; Houlden, H.* ; Prokisch, H. ; Rötig, A.* ; Dionisi-Vici, C.* ; Bertini, E.* ; Ghezzi, D.* ; Carrozzo, R.* ; Diodato, D.*

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Hum. Mutat. 42, 699-710 (2021)
Postprint DOI PMC
Open Access Green
Isolated biochemical deficiency of mitochondrial complex I is the most frequent signature amongst mitochondrial diseases and is associated with a wide variety of clinical symptoms. Leigh syndrome represents the most frequent neuroradiological finding in patients with complex I defect and >80 monogenic causes have been involved in the disease. In this report, we describe 7 patients from four unrelated families harbouring novel NDUFA12 variants, 6 of them presenting with Leigh syndrome. Molecular genetic characterization was performed using next generation sequencing combined with the Sanger method. Biochemical and protein studies were achieved by enzymatic activities, blue native gel electrophoresis and Western blotting. All patients displayed novel homozygous mutations in the NDUFA12 gene leading to the virtual absence of the corresponding protein. Surprisingly, despite in none of the analyzed patients NDUFA12 protein was detected, they present a different onset and clinical course of the disease. Our report expands the array of genetic alterations in NDUFA12 and underlines phenotype variability associated with NDUFA12 defect.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Leigh Syndrome ; Nadh Ubiquinone Oxidoreductase ; Ndufa12 ; Mitochondrial Disease
Sprache englisch
Veröffentlichungsjahr 2021
HGF-Berichtsjahr 2021
ISSN (print) / ISBN 1059-7794
e-ISSN 1098-1004
Zeitschrift Human Mutation
Quellenangaben Band: 42, Heft: 6, Seiten: 699-710 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen E-Rare
Ministero della Salute
DOI 10.1002/humu.24195
WOS ID WOS:000632521800001
Scopus ID 85103181852
PubMed ID 33715266
Erfassungsdatum 2021-05-12
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