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Titolo:
Detection of thyroid-stimulating hormone receptor and G(s)alpha mutations:in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis
Autore:
Trulzsch, B; Krohn, K; Wonerow, P; Chey, S; Holzapfel, HP; Ackermann, F; Fuhrer, D; Paschke, R;
Indirizzi:
Univ Leipzig, Dept Internal Med 3, D-04103 Leipzig, Germany Univ Leipzig Leipzig Germany D-04103 nal Med 3, D-04103 Leipzig, Germany
Titolo Testata:
JOURNAL OF MOLECULAR MEDICINE-JMM
fascicolo: 12, volume: 78, anno: 2001,
pagine: 684 - 691
SICI:
0946-2716(2001)78:12<684:DOTHRA>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
THYROTROPIN RECEPTOR; G-PROTEIN; HYPERFUNCTIONING ADENOMAS; GERMLINE MUTATION; SOMATIC MUTATIONS; CONSTITUTIVE ACTIVATION; POINT MUTATIONS; GENE; EXPRESSION; HYPERTHYROIDISM;
Keywords:
denaturing gradient gel electrophoresis; thyroid-stimulating hormone receptor; thyroid-stimulating hormone receptor mutation; toxic thyroid nodule;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Paschke, R Univ Leipzig, Dept Internal Med 3, Ph Rosenthal Str 27, D-04103Leipzig, Germany Univ Leipzig Ph Rosenthal Str 27 Leipzig Germany D-04103rmany
Citazione:
B. Trulzsch et al., "Detection of thyroid-stimulating hormone receptor and G(s)alpha mutations:in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis", J MOL MED-J, 78(12), 2001, pp. 684-691

Abstract

The actual frequency of constitutively activating thyrotropin receptor or G(s)alpha mutations in toxic thyroid nodules (TTNs) remains controversial as considerable variation in the prevalence of these mutations has been reported. We studied a series of 75 consecutive TTNs and performed mutation screening by the more sensitive method of denaturing gradient gel electrophoresis (DGGE) in addition to direct sequencing. Furthermore, the likelihood ofsomatic mutations occurring in genes other than that for the thyroid-stimulating hormone receptor (TSHR) and exons 7-9 of the G(s)alpha protein gene was determined by clonality analysis of TTNs, which did not harbor mutations in the investigated genes. In 43 of 75 TTNs (57%) constitutively active TSHR mutations were identified. Six TSI-IR mutations were detected only by DGGE, underlining the importance of a sensitive screening method. Novel, constitutively activating mutations were identified at positions 425 (Ser-->Leu) and 512 (Leu-->Glu/Arg). Furthermore, a new base substitution was detected at position Pro639Ala (CCA-->GCA). Ten of 20 TSHR or G(s)alpha mutation negative cases (50%) showed nonrandom X-chromosome inactivation, indicatingclonal origin. In conclusion, somatic, constitutively activating TSHR mutations appear to be a major cause of TTNs (57%), while mutations in G(s)alpha play a minor role (3%). The mutation negative but clonal cases indicate aprobable involvement of somatic mutations other than in the TSH receptor or G(s)alpha genes as the molecular cause of these hot nodules.

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Documento generato il 19/01/20 alle ore 14:43:29