Back to Search Start Over

The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study

Authors :
Marika Giuliano
Sandro Santa Paola
Eugenia Borgione
Mariangela Lo Giudice
Francesco Domenico Di Blasi
Rosa Pettinato
Corrado Romano
Carmela Scuderi
Source :
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10826 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

Abstract

The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the lysine tRNA genes in human mtDNA has been reported to be polymorphic in Asian, Oceanian and Sub-Saharan African populations, but it has rarely been observed in Europe. In this study, we will evaluate the possible association between the MIC9D polymorphism and cognitive disorders. A genetic analysis of unrelated Sicilian patients with cognitive deficits was performed to identify the 9 bp deletion MIC9D polymorphism. The MIC9D polymorphism was found in six patients, whereas this variant was absent in control individuals without cognitive deficits. The patients with the MIC9D polymorphism exhibited more complex clinical presentations; in particular, all had neuromuscular disorders and five also presented with behavioral disorders. The present study suggests a potential association between the MIC9D polymorphism and cognitive impairment with concurrent neuromuscular and behavioral involvement.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
25
Issue :
19
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.8ca89caec05f4966a68c8e734d2f8a93
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms251910826