Molecular and Histopathological Study on Mitochondrial DNA Mutations in Oral Lesions among Sudanese Patients

Abstract

The study was conducted as a retrospective study on oral lesions biopsies in Khartoum – Sudan, to investigate the frequency of mitochondrial DNA (D- loop) mutations in oral lesions and to determine whether the genetic alteration has a role in oral carcinogenesis. The study included one hundred and fifteen (115) subjects, their age ranged from 10 to 90 years with mean age 47 years. Fifty four 54 (47%) were females and sixty one 61(53%) were males. The data were collected from examination of biopsies and patients records. All oral biopsies were examined and classified in to Histopathological pattern by professional pathologist using Hematoxylin & Eosin standard method. The detection of mtDNA4977 bp deletion was performed by PCR amplification with three sets of primers: deletion region, positive and negative control. Of the 115 subjects, 4 (3.5%) showed 4,977 -bp deletion. When characteristics and risk factors including age, sex, tumor cell differentiation status were analyzed cross tabulating to 4,977 -bp deletion, the study showed 3(75%) were females and only one (25%) was male. All the 4,977 -bp deletion (4 ) cases (100%) occurred among population having malignant lesions, and cases of squamous cell carcinoma constituted 3 (75%) of total mutations. The study provided that not all oral lesions underwent surgical operations were having malignancy. Although, the majority of tumors were squamous cell carcinoma, there was a probability of other types of malignancy, Aggressiveness of tumor increased with age. It could be concluded that there was no obvious correlation between 4.977 bp deletion and prognostic indicators among Sudanese with oral lesions, which may limits it`s utility as prognostic biomarker in oral disease, therefore further studies with wide scope in this topic was recommended.