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Zarrouk Mahjoub S.,Unite dEpidemiologie Genetique et Moleculaire | Mehri S.,Unite dEpidemiologie Genetique et Moleculaire | Ourda F.,Services des Explorations Fonctionnelles Cardiologiques | Boussaada R.,Services des Explorations Fonctionnelles Cardiologiques | And 3 more authors.

Though left ventricular hypertrabeculation/noncompaction (LVNC) is frequently associated with mitochondrial DNA (mtDNA) mutations, it has not been reported in association with the transition m.3308T>C of the NADH dehydrogenase subunit 1 (ND1) gene. The index patient is a 16-year-old Tunisian female who was investigated for a systolic murmur and cardiomegaly. Echocardiography revealed tricuspid insufficiency, moderate left ventricular dilatation, Ebstein's anomaly, a superior caval vein draining into the coronary sinus and, surprisingly, LVNC of the apex and the lateral wall. LVNC was absent in all other cardiologically investigated siblings. RNA and mtDNA sequence analysis revealed the known homoplasmic mutation m.3308T>C resulting in the replacement of the first amino acid methionine by threonine in the ND1 subunit of respiratory chain complex I. The m.3308T>C mutation was also present in the patient's mother and several other family members but absent in 350 controls. Additionally, the index patient carried the polymorphisms m.8248A>G in the COX2 gene and m.8468C>T in the ATP8 gene. It is concluded that LVNC may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene. However, the pathogenetic role of this mutation in the development of LVNC remains elusive. © 2011 S. Karger AG, Basel. Source

Bel Hadj Ali I.,Unite dEpidemiologie Genetique et Moleculaire | Ben Saida A.,Unite dEpidemiologie Genetique et Moleculaire | Beltaief N.,Unite dEpidemiologie Genetique et Moleculaire | Namouchi I.,Unite dEpidemiologie Genetique et Moleculaire | And 3 more authors.
Annals of Human Biology

Background: Otosclerosis is a common form of hearing impairment among Western-Eurasian adults. The cause of otosclerosis remains unknown. Autoimmune reaction against the otic capsule has been suggested as a possible aetiologic factor in otosclerosis.Aim: The present study is the first report to evaluate the relationship between class I major histocompatibility complex (MHC) genes (HLA-A, HLA-B and HLA-Cw) and genetic susceptibility to otosclerosis in Tunisian patients.Subjects and methods: Fifty unrelated Tunisian patients exhibiting clinical otosclerosis were typed for HLA-A, HLA-B and HLA-Cw antigens and compared with 100 ethnically-matched healthy controls.Results: Increased frequencies of HLA-A*03 (OR 4.16, Pc < 0.043), HLA-B*35 (OR 2.76, Pc < 0.043) and HLA-Cw*03 (OR 4.57, Pc < 0.043) antigens were found in the patients with otosclerosis compared with healthy controls. Individuals with HLA-A*30 (OR 0.25, Pc < 0.043), HLA-B*51 (OR 0.11, Pc < 0.043), HLA-Cw*16 (OR 0.08, Pc < 0.043) and Cw*06 (OR 0.32, Pc < 0.043) antigens have a protective effect against otosclerosis.Conclusions: In conclusion, the data suggest that a variation in class I HLA antigens could be a genetic factor involved in susceptibility to otosclerosis in the Tunisian population. © Informa UK, Ltd. Source

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