Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss.

Abstract

UNLABELLED:

Mutations in mitochondrial DNA (mtDNA), especially the A1555G transition in the 12S rRNA gene, are one of the causes of both aminoglycoside-induced and non-syndromic sensorineural hearing loss.

OBJECTIVE:

The aim of this study was to determine the prevalence of the A1555G mitochondrial mutation in Moroccan patients.

METHODS:

We performed molecular characterization by PCR-RFLP and direct sequencing of one hundred and sixty four patients (84 unrelated familial and 80 sporadic cases) with a congenital sensorineural non-syndromic hearing loss and one hundred normal hearing controls for the occurrence of the A1555G mutation.

RESULTS:

Mutational analysis of the mtDNA showed the presence of the homoplasmic A1555G mutation in three families, leading to a frequency of 3.6% similar to that reported for European-populations. No A1555G mutation was detected in sporadic and controls cases. However, we detected in twenty normal hearing controls a novel polymorphism A1557C, which was not found in patient samples. We further evidenced the presence of the A1438G mitochondrial polymorphism in four patients with sensorineural hearing loss and in five controls.

CONCLUSION:

Our results show that the occurrence of the A1555G mutation in hearing impaired patient's accounts for 3.6% in a Moroccan patients and those novel mtDNA polymorphisms might contribute to a novel sub-haplogroup specific of the Magrheb.

• Authors: Halima Nahili, Majida Charif, Redouane Boulouiz, Safaa Bounaceur, Houda Benrahma, Omar Abidi, Abdelaziz Chafik, Hassan Rouba, Mostafa Kandil, Abdelhamid Barakat
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 74 Issue 9 Pg. 1071-4 (Sep 2010) ISSN: 1872-8464 [Electronic] Ireland
• PMID: 20637512 (Publication Type: Journal Article)
• Copyright: Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• DNA, Mitochondrial

Topics

• Audiometry, Pure-Tone
• Bone Conduction
• DNA, Mitochondrial (genetics)
• Female
• Hearing Loss, Sensorineural (congenital, genetics, physiopathology)
• Humans
• Male
• Morocco
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Polymorphism, Restriction Fragment Length