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Molecular biology and its application in paediatric endocrinology

  • Living Pediatrics Symposium in Honour of the 80th Birthday of Professor E. Rossi, Berne, Switzerland
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Abstract

Recent advances in molecular biology and genetics have paved the way to a greater understanding of molecular mechanisms of human disease and, in particular, endocrine disorders. For example, new information concerning the structure and function of different receptors and intracellular signalling has allowed precise definition of the molecular defects involved in various disorders such as McCune-Albright syndrome, growth hormone insensitivity syndromes. Although these conditions might be rare, their susceptibility to analysis was due largely to availability and progress of the molecular biological methods. The aim of this review article is to introduce the language of molecular biology by means of a selected group of endocrine disorders.

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Abbreviations

hGH :

human growth hormone

IGF :

insulin like growth factor

PCR :

polymerase chain reaction

RFLP :

restriction fragment length polymorphism

References

  1. Anderson WF (1992) Human gene therapy. Science 256: 808–813

    PubMed  Google Scholar 

  2. Chelly J, Kaplan JC, Maire P, Gautron S, Kahn A (1988) Transcription of the distrophin gene in human muscle and non-muscle tissues. Nature 332: 858–860

    PubMed  Google Scholar 

  3. Erlich HA, Gelfand D, Sninsky JJ (1991) Recent advances in the polymerase chain reaction. Science 252: 1643–1651

    PubMed  Google Scholar 

  4. Forest MG, Dörr HG on behalf of ESPE (1993) Prenatal treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: European experience in 223 pregnancies at risk. Pediatr Res [Suppl] 33: S3

    Google Scholar 

  5. Frohman FA, Martin GR (1989) Cut, paste and save: new approaches to altering specific genes in mice. Cell 56: 145–147

    PubMed  Google Scholar 

  6. Glasgow JFT, Nevin NC, Thomas PS (1978) Hypochondroplasia. Arch Dis Child 53: 868–872

    PubMed  Google Scholar 

  7. Han VK, D'Ercole AJ, Lund PK (1987) Cellular localization of somatomedin- (insulin-like growth factor) mRNA in the human fetus. Science 286: 193–196

    Google Scholar 

  8. Holtzman EJ, Harris HW Jr, Kolakowski LF Jr, Guay-Woodford LM, Botelho B, Ausiello DA (1993) A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. N Engl J Med 328: 1534–1537

    PubMed  Google Scholar 

  9. Höppener JWM, Patger-Holthuizen de, Geurts van Kessel AHM, Jansen M, Kittur SD, Antanarakis SE, Lipos CJM, Sussenbach JS (1985) The human gene encoding insulin-like growth factor I is located on chromosome 12. Hum Genet 69: 157–160

    PubMed  Google Scholar 

  10. Kadowaki T, Bevins CL, Cama A, Ojamaa K, Marcu-Samuels B, Kadowaki H, Beitz L, McKeon C, Taylor SI (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 240: 787–790

    PubMed  Google Scholar 

  11. Kanaka Ch, Eblé A, Mullis PE (1991)BglI RFLP for the human erb-Aß locus on chromosome 3p22-3p24.1 (THRB). Nucl Acids Res 19: 4574

    Google Scholar 

  12. Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K (1992) Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17α-hydroxylase. Lancet 339: 770–773

    PubMed  Google Scholar 

  13. Kuehn MR, Bradley A, Robertson EJ, Evans MJ (1987) A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutation into mice. Nature 326: 295–298

    PubMed  Google Scholar 

  14. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Paslier DL, Cohen D, Caterina D, Bougueleret L, Delemarre-Van de Waal H, Lutfalla G, Weissenbach J, Petit C (1991) The candidate gene for the X-linked Kallman syndrome encodes a protein relate to adhesion molecules. Cell 67: 423–435

    PubMed  Google Scholar 

  15. Lyons J, Landis CA, Harsh G, Vallar L, Grünewald K, Feichtinger HDuh QY, Clark OH, Kawasaki E, Bourne HR, McCormick J (1990) Two G-protein oncogenes in human endocrine tumors. Science 249: 655–659

    PubMed  Google Scholar 

  16. Maxam AM, Gilbert W (1997) A new method of sequencing DNA. Proc Natl Acad Sci USA 74: 560–564

    Google Scholar 

  17. McPhaul MJ, Marcelli M, Zoppi S, Griffin JE, Wilson JD (1993) Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab 76: 17–23

    PubMed  Google Scholar 

  18. Merendino JJ, Spiegel AM, Crawford JD, O'Carroll AM, Brownstein MJ, Lolait SJ (1993) Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. N Engl J Med 328: 1538–1541

    PubMed  Google Scholar 

  19. Miller DA (1992) Human gene therapy comes of age. Nature 357: 455–457

    PubMed  Google Scholar 

  20. Morel Y, Murena M, Forest MG (1993) Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatr Res 33: S3

    Google Scholar 

  21. Mulligan RC (1993) The basic science of gene therapy. Science 260: 926–932

    PubMed  Google Scholar 

  22. Mullis KB, Faloona FA (1987) Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155: 335–350

    PubMed  Google Scholar 

  23. Mullis PE, Lund T, Patel MS, Brook CGD, Brickell PM (1991) Regulation of human growth hormone receptor gene expression by human growth hormone in a human hepatoma cell line. Mol Cell Endocrinol 76: 125–133

    PubMed  Google Scholar 

  24. Mullis PE, Patel MS, Brickell PM, Hindmarsh PC, Brook CGD (1991) Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12p23 to the disease in a subgroup of these patients. Clin Endocrinol 34: 265–274

    Google Scholar 

  25. Newton CR, Graham A, Heptinstall LE (1989) Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucl Acids Res 17: 2503–2516

    PubMed  Google Scholar 

  26. Odwara M, Kadowaki T, Yamamoto R, Shibasaki Y, Tobe K, Accili D, Bevins C, Mikami Y, Matsuura N, Akanuma Y, Takaku F, Taylor SI, Kasuga M (1988) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. Science 245: 66–68

    Google Scholar 

  27. Ott J (1985) Linkage package; analysis of human genetic linkage. John Hopkins University Press, Baltimore

    Google Scholar 

  28. Rommens JM, Iannuzzu MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rosmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065

    PubMed  Google Scholar 

  29. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467

    PubMed  Google Scholar 

  30. Savage MO, Wilton P, Ranke MB, Chatelain PG, Blum WF, Cotteril AM, Preece MA, Rosenfeld RG (1993) Therapeutic response to recombinant IGF-I in thirty two patients with growth hormone insensitivity. Pediatr Res [Suppl] 33: S5

    PubMed  Google Scholar 

  31. Spiegel AM, Shenker A, Weinstein S (1993) The McCune Albright Syndrome: a genetically determined signal transduction disorder. Pediatr Res [suppl] 33: S6-S7

    Google Scholar 

  32. Watson JD, Crick FHC (1953) The structure of DNA. Cold Spring Harbor Symp Quant Biol 18: 123–131

    PubMed  Google Scholar 

  33. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM (1991) Activating mutations of the stimulatory G-protein in the McCune-Albright syndrome. N Engl J Med 325: 1688–1695

    PubMed  Google Scholar 

  34. Wood TI, Brown AL, Rechler MM, Pintar JE (1990) The expression of an insulin-like growth factor (IGF)-binding protein gene is distinct from IGF-II in the midgestational rat embryo. Mol Endocrinol 4: 1257–1263

    PubMed  Google Scholar 

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Mullis, P.E., Wagner, J.K. Molecular biology and its application in paediatric endocrinology. Eur J Pediatr 154 (Suppl 4), S30–S39 (1995). https://doi.org/10.1007/BF02191503

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