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INTERNATIONAL JOURNAL OF PHARMACEUTICAL RESEARCH

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IJPR included in UGC-Approved List of Journals - Ref. No. is SL. No. 4812 & J. No. 63703

Published by : Advanced Scientific Research
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0975-2366
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IJPR 9[3] July - September 2017 Special Issue

July - September 9[3] 2017

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Evaluation of pathogenic correlation in Iraqi patients with Wilson disease on different treatment protocols

Author: FADWA GHASSAN HAMEED, ASS.PROF.DR.INAMSAMEH, ASSPROFDRMOHAMMED MAHMOOD MOHAMMED
Abstract: Background: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal gangliaand chornea. Main clinical manifestations are hypertransaminasemia, tremors, dysarthria, dystonia and psychiatric symptoms. The phenotypic variability in WD is considerable and its onset can be heterogeneous: the most common type in childhood is the hepatic involvement, followed by the neurological one or others. Patients and methods: A total of 42 Iraqi patients diagnosed with Wilson disease (20 males and 22 female) with age range between 10 – 20 years, who attended the Rare Disease clinic of the Al-Imaamin AL-Kadhmian medical city Hospital –Baghdad/Iraq ,were diagnosed according to LEIPZIG score system and genetic test were assessed to these patients by using (Sanger-Sequencing Method). Results:Six single nucleotide polymorphisims (SNPs.) have been identified as follows:SNP.NO.1(rs1384965287), SNP.NO.2(rs116947713), SNP.NO.3 (rs751202110), SNP.NO.4(rs137853284), SNP.NO.5(rs751798708)and SNP.NO.6(rs1010500703). Three ATP7B gene mutations were identified: (p.Arginine 778 Tryptophan),(p.Tyrosin 715- stop codon)and(p.Arginin778 Tryptophan). Genotype frequency shows a highly significant at p value(= 0.01)for SNPs. No.(3,4,5 and 6).Allele frequency in SNP no.6 (C:T) , shows a highly significant at p value(= 0.01).Mean while the Odd ratio(it is the ratio of the odds of disease in the exposed group compared with the non-exposed) was very high in SNP. no.6 (20.72), SNP.no.5(9.497),SNP.nO.3(4.765), While for SNP.no.2 and 4 was the same (2.58).By using sanger sequencing method, Four novel mutations were detected for the 42 Wilson’s disease patients as follows: rs4943044 AA (Intron-non coded)with (52.3%) as a benign mutation ,rs137853284 CC (p.Arginine 778 Tryptophan ) with (92.8%)and rs751202110 CC (p.Tyrosin 715- stop codon) with (90.4%) as a pathogenic mutations meanwhile the rs751798708 TT (p.Arginin778 Tryptophan) with (85.7%) is considered as likely pathogenic. There was no significant difference (P=0.13) between the three mutations (pathogenic, likely pathogenic and benign) among the study groups. The percentage of pathogenic mutation was 90 % in DPenicillamin group, 77.8% in Trinetin group and 56.5% in Zinc Acetate group. Likely Pathogenic mutation percentage was 10 % in D-Penicillamin, 22.2% in Trinetin and 43.5% in Zinc Acetate groups while,the percentage of Benign Mutation was 90% in D- penicillamin,67% in Trinetin and 83% in Zinc Acetate groups. Conclusion: The intervention of modifier genes regulating copper metabolism in the presence of mutations ATP7B,as in WD, could be considered. Heterogeneous clinical presentations, probably, could not depend only on ATP7B degree of functional alterations or genetic mutation.
Keyword: Wilson disease, Benign, Pathogenic, LikelyPathogenic, Single nucleotide polymorphisims (SNPs.).
DOI: https://doi.org/10.31838/ijpr/2021.13.02.169
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