Display options
Cite
Guria S, Bankura B, Balmiki N, et al. Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. Int J Endocrinol. 2014;2014:390121doi: 10.1155/2014/390121.
Guria, S., Bankura, B., Balmiki, N., Pattanayak, A. K., Das, T. K., Sinha, A., Chakrabarti, S., Chowdhury, S., & Das, M. (2014). Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. International journal of endocrinology, 2014390121. https://doi.org/10.1155/2014/390121
Guria, Srikanta, et al. "Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis." International journal of endocrinology vol. 2014 (2014): 390121. doi: https://doi.org/10.1155/2014/390121
Guria S, Bankura B, Balmiki N, Pattanayak AK, Das TK, Sinha A, Chakrabarti S, Chowdhury S, Das M. Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. Int J Endocrinol. 2014;2014:390121. doi: 10.1155/2014/390121. Epub 2014 Apr 13. PMID: 24829575; PMCID: PMC4009129.
Copy Download .nbib Format: NLM
Share it on

Int J Endocrinol. 2014;2014:390121. doi: 10.1155/2014/390121. Epub 2014 Apr 13.

Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis.

International journal of endocrinology

Srikanta Guria, Biswabandhu Bankura, Nisha Balmiki, Arup Kumar Pattanayak, Tapas Kumar Das, Anirban Sinha, Sudipta Chakrabarti, Subhankar Chowdhury, Madhusudan Das

Affiliations

  1. Post Graduate Department of Zoology, Barasat Government College, Barasat, Kolkata 700 124, India.
  2. Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata, West Bengal 700 019, India.
  3. Bagnan Rural Hospital, Bagnan, Howrah, West Bengal 711 303, India.
  4. Department of Endocrinology, Institute of Post Graduate Medical Education & Research, 244 A J C Bose Road, Kolkata 700 020, India.
  5. Institute of Life Sciences, Nalco Square, Chandra Sekharpur, Bhubaneswar 751 023, India.

PMID: 24829575 PMCID: PMC4009129 DOI: 10.1155/2014/390121

Abstract

Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

References

  1. J Clin Endocrinol Metab. 1997 Feb;82(2):649-53 - PubMed
  2. Hum Mutat. 1995;6(1):9-16 - PubMed
  3. Clin Chem. 1996 Feb;42(2):239-43 - PubMed
  4. Cell. 2002 May 3;109(3):275-82 - PubMed
  5. Gene. 2012 Apr 25;498(1):116-9 - PubMed
  6. Clin Endocrinol (Oxf). 2003 Aug;59(2):198-206 - PubMed
  7. FEBS Lett. 1990 Jun 18;266(1-2):133-41 - PubMed
  8. J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12 - PubMed
  9. Eur J Endocrinol. 2005 Feb;152(2):193-8 - PubMed
  10. Biochemistry. 1989 May 16;28(10):4481-9 - PubMed
  11. Hum Mutat. 2003 Sep;22(3):259 - PubMed
  12. Thyroid. 1994 Summer;4(2):173-8 - PubMed
  13. J Mol Biol. 2004 Jun 18;339(5):1025-39 - PubMed
  14. J Endocrinol. 2002 Mar;172(3):627-35 - PubMed

Publication Types