Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Mariana Ferreira (Author) Other; Teresinha Evangelista (Author) Other; Ligia S Almeida (Author) Other; Joao Martins (Author) Other; Maria Carmo Macario (Author) Other; Esmeralda Martins (Author) Other; Ana Moleirinho (Author) Other; Luisa Azevedo (Author) FCUP; Laura Vilarinho (Author) Other; Filippo M Santorelli (Author) Other

Journal

Title: Neuromuscular Disorders

Vol. 21

Pages: 483-488

ISSN: 0960-8966

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 5 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-002-PXC

DOI: 10.1016/j.nmd.2011.03.011

Abstract (EN): Diseases affecting mtDNA stability, termed nuclear mitochondrial intergenomic communication disorders, are caused by a primary nuclear gene defect resulting in multiple mtDNA deletions. The aim of this study was to estimate the frequency of known etiologies and the spectrum of mutations in a cohort of 21 patients harboring multiple mtDNA deletions in skeletal muscle. We showed that 10 cases (48%) display mutations in POLG, including eight previously reported variants and two novel mutations (namely, p.Trp585X and p.Arg1081Gln). The novel mutations affect evolutionary conserved residues and were absent in a large set of control chromosomes. These findings expand the array of mutations associated with multiple rearranged mtDNA attributed to mutations in POLG. The relatively high diagnostic yield (about one in two cases) supports the notion that it is recommended to test POLG routinely in diagnostic laboratories whenever multiple mtDNA deletions are present, regardless of the age of onset of patients and their clinical phenotype.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6