analysis of mitochondrial 4977-bp deletion and d-loop variation in iranian non-alcoholic fatty liver disease patients

Background: accumulating evidence indicates that mitochondrial dysfunction is considered an effective factor in the formation or development of non-alcoholic fatty liver disease (nafld) although the underlying mechanisms of the changes are still unclear. objectives: the aim of the study was to determine the 4977-bp deletion levels and variations in the displacement (d) loop region of mitochondrial dna (mtdna) in nafld patients. methods: in this case-control study, 43 nafld patients and 156 controls were enrolled. the blood dna of 43 patients with nafld and 156 healthy individuals was investigated to determine the 4977-bp deletion and sequence changes in the d-loop region using methods such as polymerase chain reaction (pcr), multiplex pcr, and dna sequencing. results: the results indicated that no 4977-bp deletion was found in any of the samples. 94 variations were found in the d-loop region including two deletions, four insertions, and 88 single nucleotide polymorphisms (snp), 16 of which were just found in patients. there was a significant difference between the nafld patients and controls in six variants (p < 0.05). two novel insertions (16171 ins t and 16221 ins c) were observed in patients. finally, the results revealed no statistically significant difference (p > 0.05) in c variations in d310 mitochondrial dna between the two groups. conclusions: according to the findings, we believe that the disease damages the mitochondrial dna and leads to the formation of these mutations. our results also showed that d-loop alterations are frequent in nafld and may play a significant role in the progression of nafld.