POLYMORPHISM  IN EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHASE

POLYMORPHISM  IN EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHASE

ASSOCIATION OF G894T POLYMORPHISM  IN EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHAESE  ( eNOS GENE ) WITH DIABETIC SEPTIC FOOT PREDISPOSITION IN SUDANESE

    Authors:

Shaza Esmat Omer Mohamed Ali ¹ , Mohamed Mahmoud Mohammed Ahmed ²,  and Manal Ahmed  M. A . Fadl³ .

¹ Department of Biotechnology ,Juba university .

 ² Fellowship  of Sudan Medical Specialization board

³Assistant professor of Molecular Biology –Alneelain  University

Diabetic septic foot is complication of diabetes and leads to amputation of extremities with high morbidity rate. In Sudan the prevalence of DSF is increasing and genetic role was evidenced .

The endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene is responsible for the synthesis of endothelium-derived nitric oxide (NO) with function include vasodilation  ,neurotransmitter, neuroprotective ,pain perception , and vasoprotective .The    polymorphism of G to T at nucleotide 894 in exon 7 of eNOS  gene  change    eNOS structural   and activity leading to   endothelial dysfunction and  then  impaired wound healing .

This  cross sectional study was carried out to examine the association of SNP (G894T) of  eNOS gene with Sudanese  DSF patients using blood sample from 53  diabetic patients as control and 62  DSF patients as cases  with clinical and demographic data   questionnaire without  restriction to age, gender, race or disease.

DNA from blood sample was extracted using guanidine chloride method and its   quality and quantity was  measured  using electrophoresis and nanaophoto-meter  respectively  and  then DNA was  amplified in PCR thermo cycler whereas genotyping and alleles percentages was detected using restriction fragment length polymorphism (RFLP) technique .

 Results showed no  association of G894T polymorphism of the (eNOS) gene with DSF  (P= 0.105)which may be explained by gene pools ,environmental factors and neuropathy  which detected in 68.8%of DSF increasing  the risk of DSF predisposition 3.7 folds   Moreover, the T mutant allele was frequent among both DSF(91.1%) and DM(81.1%)  patients .

Also high frequency of males among DSF(83.8%) with a significant gender difference between DSF and DM patients (P= 0.00)  may be attributed to smoking, sensitivity to insulin and negative  effect of androgens hormone on wound healing.

The low socioeconomic status among DSF (95.7%) was  significantly  difference   (P=0.00) which  may be regarding  to  lack of foot care and treatment  .

 

 

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