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Dergiler / Turkish Journal of Medical Sciences / 2017 / Cilt: 47 - Sayı: 6

Molecular analysis and prevalence of Huntington disease in northwestern Iran

Parisa AOB
Mahmoud SHEKARI KHANIANI
Mohammadreza RANJOURI
Sima MANSOORI DERAKHSHAN
Sayfa
1880–1884
Yayın Tarihi
2022-11-05
DOI
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Conclusion: We found a significant correlation between age at onset of the disease and length of the expanded CAG tract: the lower the age, the longer the trinucleotide repeats length.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Background/aim: Huntington disease (HD) is a progressive adult-onset neurodegenerative disorder presenting an autosomal dominant inheritance.
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Temel Bulgular & Veri:Results: Out of 40 cases, we identified 14 nonkindred individuals with one expanded CAG allele at the IT15 gene.
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Sonuç & Katkı:Conclusion: We found a significant correlation between age at onset of the disease and length of the expanded CAG tract: the lower the age, the longer the trinucleotide repeats length.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Background/aim: Huntington disease (HD) is a progressive adult-onset neurodegenerative disorder presenting an autosomal dominant inheritance. Since there is no information on the prevalence of HD in northwestern Iran, the aim of the present study was to determine the prevalence of HD and the number of CAG trinucleotide repeats in the population of northwestern Iran. Materials and methods: Genomic DNA was extracted from whole blood by the salting-out method. DNA samples were analyzed to determine the number of CAG trinucleotide repeats of the HD gene. An abnormally large number of CAG repeats, which is a diagnostic factor for the disease, was detected by polymerase chain reaction and agarose gel electrophoresis. Results: Out of 40 cases, we identified 14 nonkindred individuals with one expanded CAG allele at the IT15 gene. The frequency of the HD mutation in our group of patients was 35%. Expanded alleles varied from 36 to 70 CAG repeats, and normal alleles in HD patients varied from 20 to 26 CAG units. Conclusion: We found a significant correlation between age at onset of the disease and length of the expanded CAG tract: the lower the age, the longer the trinucleotide repeats length.

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Bu Makaleye Atıf Yap

AOB, P., KHANIANI, M. S., RANJOURI, M., DERAKHSHAN, S. M. (2022). Molecular analysis and prevalence of Huntington disease in northwestern Iran. Turkish Journal of Medical Sciences, Cilt: 47 - Sayı: 6, 1880–1884. https://ajindex.com/articles/610473

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Kaynakça (15)

  1. Heston LL, Folstein, SE. Huntington’s disease: a disorder of families. J Nerv Ment Dis 1991; 179: 512
  2. Group HsDCR. Huntington’s Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable in Huntington’s disease chromosomes. Cell 1993; 72: 971-983
  3. Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E et al. A worldwide study of the Huntington’s disease mutation: the sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401-1406
  4. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nat Genet 1993; 4: 398-403
  5. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Craufurd D, Curtis A et al. Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36–39 repeats. Am J Hum Genet 1996; 59: 16
  6. Sharp AH, Loev SJ, Schilling G, Li SH, Li XJ, Bao J, Wagster MV, Kotzuk JA, Steiner JP, Lo A et al. Widespread expression of Huntington’s disease gene (IT15) protein product. Neuron 1995; 14: 1065-1074
  7. Glass M, Dragunow M, Faull R. The pattern of neurodegeneration in Huntington’s disease: a comparative study of cannabinoid, dopamine, adenosine and GABA A receptor alterations in the human basal ganglia in Huntington’s disease. Neuroscience 2000; 97: 505-519
  8. Cattaneo E, Zuccato C, Tartari M. Normal huntingtin function: an alternative approach to Huntington’s disease. Nat Rev Neurosci 2005; 6: 919-930
  9. Li SH, Li XJ. Huntingtin–protein interactions and the pathogenesis of Huntington’s disease. Trends Genet 2004; 20: 146-154
  10. Mattson MP. Apoptosis in neurodegenerative disorders. Nat Rev Mol Cell Bio 2000; 1: 120-130
  11. Hickey MA, Chesselet MF. Apoptosis in Huntington’s disease. Prog Neuro-Psychoph 2003; 27: 255-265
  12. Hayden MR. Huntington’s chorea. Springer Science+Business Media 2012; 2: 15
  13. Paulsen JS. Cognitive impairment in Huntington disease: diagnosis and treatment. Curr Neurol Neurosci 2011; 11: 474- 483
  14. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010; 5: 40
  15. Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI,