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
Anderson WF (1992) Human gene therapy. Science 256: 808–813
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
Erlich HA, Gelfand D, Sninsky JJ (1991) Recent advances in the polymerase chain reaction. Science 252: 1643–1651
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
Frohman FA, Martin GR (1989) Cut, paste and save: new approaches to altering specific genes in mice. Cell 56: 145–147
Glasgow JFT, Nevin NC, Thomas PS (1978) Hypochondroplasia. Arch Dis Child 53: 868–872
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
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
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
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
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
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
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
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
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
Maxam AM, Gilbert W (1997) A new method of sequencing DNA. Proc Natl Acad Sci USA 74: 560–564
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
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
Miller DA (1992) Human gene therapy comes of age. Nature 357: 455–457
Morel Y, Murena M, Forest MG (1993) Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatr Res 33: S3
Mulligan RC (1993) The basic science of gene therapy. Science 260: 926–932
Mullis KB, Faloona FA (1987) Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155: 335–350
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
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
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
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
Ott J (1985) Linkage package; analysis of human genetic linkage. John Hopkins University Press, Baltimore
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
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467
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
Spiegel AM, Shenker A, Weinstein S (1993) The McCune Albright Syndrome: a genetically determined signal transduction disorder. Pediatr Res [suppl] 33: S6-S7
Watson JD, Crick FHC (1953) The structure of DNA. Cold Spring Harbor Symp Quant Biol 18: 123–131
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
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
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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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DOI: https://doi.org/10.1007/BF02191503