Home Articles List Article Information
Iranian Journal of Pathology
Journal Archive
Volume Volume 14 (2019)
Volume Volume 13 (2018)
Volume Volume 12 (2017)
Volume Volume 11 (2016)
Volume Volume 10 (2015)
Volume Volume 9 (2014)
Volume Volume 8 (2013)
Volume Volume 7 (2012)
Volume Volume 6 (2011)
Volume Volume 5 (2010)
Volume Volume 4 (2009)
Volume Volume 3 (2008)
Volume Volume 2 (2007)
Volume Volume 1 (2006)
Galehdari, H., Tangestani, R. (2012). Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran. Iranian Journal of Pathology, 7(4), 262-266.
Hamid Galehdari; Raheleh Tangestani. "Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran". Iranian Journal of Pathology, 7, 4, 2012, 262-266.
Galehdari, H., Tangestani, R. (2012). 'Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran', Iranian Journal of Pathology, 7(4), pp. 262-266.
Galehdari, H., Tangestani, R. Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran. Iranian Journal of Pathology, 2012; 7(4): 262-266.

Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran

Article 11, Volume 7, Issue 4, Summer 2012, Page 262-266  XML PDF (289.09 K)
Document Type: Case Reports
Authors
Hamid Galehdari email 1; Raheleh Tangestani2
1Dept. of Genetics, Shahid Chamran University, Ahvaz, Iran
2Toxicology Research Centre, Jundishapur University of Medical Science, Ahvaz, Iran
Abstract
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to 500 mutations were found in the ATP7B gene that weaken or fully disrupt the function of the gene product. Recurrent mutations were found in different population. We found a homozygous pathogenic missense mutation at codon 778 (R778W) in an individual from southwest Iran. This mutation has been reported in previous studies in the continents America and Europe. The present study is the first report from Wilson disease that has been diagnosed in southwest Iran. This mutation has been shown in previous studies in patients from continents America and Europe.  
 
Keywords
Wilson Disease; ATP7B Cu-binding P type ATPase; Iran
References
  1. Brewer GJ. The risks of copper toxicity contributing to cognitive decline in the aging population and to Alzheimer’s disease.  J Am C Nut 2009;28(3):238–42.
  2. Gaw A, Murphy MJ, Cowan RA. “Copper,” in Clinical Biochemistry: An Illustrated Color Text. Philadelphia:Churchill Livingstone;2008.
  3. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease.  Lancet 2007;369(9559): 397–408.
  4. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295–508.
  5. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327–337.
  6. Nagano K, Nakamura K, Urakami K, Umeyama K, Uchiyama H, Koiwai K, et al. Intracellular distribution of the Wilson’s disease gene product (ATPase7B) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson’s disease. Hepatology 1998; 27(3):799–807.
  7. Hung IH, Suzuki M, Yamaguchi Y, Yuan DS, Klausner RD, Gitlin JD. Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J Biol Chem 1997;272(34):21461–6.
  8. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007;56(1):115–20.
  9. Shiono Y, Wakusawa S, Hayashi H, Takikawa T, Yano M, Okada T, et al. Iron accumulation in the liver of male patients with Wilson disease. Am J Gastroenterol 2001;96(11):3147-51.
  10. Kalach N, Seidman EG, Morin C, Rasquin-Weber A, O’Regan S, Laberge JM, et al. Acute liver failure from Wilson’s disease in a five year-old child. Can J Gastroenterol 1993;7:610-2.
  11. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr 2000;137(5):719-22.
  12. Milkiewicz P, Saksena S, Hubscher SG, Elias E. Wilson’s disease with superimposed autoimmune features: report of two cases and review. J Gastroenterol Hepatol 2000;15(5):570-4.
  13. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197(1):271-7.
  14. Huster D. High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease. J Biol Chem 2007;282(11):8343-55.
  15. Scheinberg IH, Sternlieb I, Schilsky M, Stockert RJ. Penicillamine may detoxify copper in Wilson’s disease. Lancet. 1987;2(8550):95.
  16. Kodama H, Murata Y, Iitsuka T, Abe T. Metabolism of administered triethylene tetramine dihydrochloride in humans. Life Sci 1997;61(9):899-907.
  17. Walshe JM, Dixon AK. Dangers of non-compliance in Wilson’s disease. Lancet. 1986;1(8485):845-7.
  18. Zali N, Mohebbi SR, Esteghamat S, Chiani M, Haghighi MM, Hosseini-Asl SM, et al. Prevalence of ATP7B gene mutations in Iranian patients with Wilson disease. Hepatitis monthly. 2011;11(11):890-4. 
Statistics
Article View: 2,037
PDF Download: 1,116