Lidský genom, monogenní diabetes mellitus a naši dětští pacienti

Translated title of the contribution: Human genome, monogenic diabetes mellitus and our paediatric patients

Jan Lebl, Š Průhová, Daniela Cihakova, E. Feigerlová, D. Pintěrová, K. Kološtová

Research output: Contribution to journalArticle

Abstract

Molecular genetic findings of the recent 10-15 years contributed to the understanding of different subtypes of diabetes mellitus caused by a single gene defect. APECED and IPEX syndrome represent rare monogenic forms of autoimmune diabetes mellitus. Single gene inborn defects of beta-cell function include a prevalent glucokinase defect (MODY2), a rare failure of potassium channel subunit Kir6.2 associated with permanent neonatal diabetes mellitus, and relatively abundant defects of components of transcriptional regulation network of beta-cells ("transcriptional factor diabetes" - MODY1, 3, 4, 5 and, 6). Also cystic fibrosis related diabetes, DIDMOAD or Wolfram syndrome and diabetes mellitus caused by a mitochondrial DNA defect may be regarded as single gene diabetes in the broader sense. For some patients, an exact diagnostic evaluation may bring novel and more attractive therapeutic options. Additionally, every newly diagnosed patients contributes to the general understanding of the function of beta-cell, that is functionally one of the most sophisticated cells of the human body.

Original languageCzech
Pages (from-to)324-331
Number of pages8
JournalCesko-Slovenska Pediatrie
Volume60
Issue number6
StatePublished - 2005

Fingerprint

Human Genome
Wolfram Syndrome
Diabetes Mellitus
Inborn Genetic Diseases
Pediatrics
Autoimmune Polyendocrinopathies
Glucokinase
Gene Regulatory Networks
Potassium Channels
Type 1 Diabetes Mellitus
Mitochondrial DNA
Human Body
Cystic Fibrosis
Molecular Biology
Genes
Therapeutics

Keywords

  • APECED
  • Diabetes mellitus
  • Glucokinase
  • IPEX syndrome
  • Kir6.2
  • MODY

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Lebl, J., Průhová, Š., Cihakova, D., Feigerlová, E., Pintěrová, D., & Kološtová, K. (2005). Lidský genom, monogenní diabetes mellitus a naši dětští pacienti. Cesko-Slovenska Pediatrie, 60(6), 324-331.

Lidský genom, monogenní diabetes mellitus a naši dětští pacienti. / Lebl, Jan; Průhová, Š; Cihakova, Daniela; Feigerlová, E.; Pintěrová, D.; Kološtová, K.

In: Cesko-Slovenska Pediatrie, Vol. 60, No. 6, 2005, p. 324-331.

Research output: Contribution to journalArticle

Lebl, J, Průhová, Š, Cihakova, D, Feigerlová, E, Pintěrová, D & Kološtová, K 2005, 'Lidský genom, monogenní diabetes mellitus a naši dětští pacienti', Cesko-Slovenska Pediatrie, vol. 60, no. 6, pp. 324-331.
Lebl J, Průhová Š, Cihakova D, Feigerlová E, Pintěrová D, Kološtová K. Lidský genom, monogenní diabetes mellitus a naši dětští pacienti. Cesko-Slovenska Pediatrie. 2005;60(6):324-331.
Lebl, Jan ; Průhová, Š ; Cihakova, Daniela ; Feigerlová, E. ; Pintěrová, D. ; Kološtová, K. / Lidský genom, monogenní diabetes mellitus a naši dětští pacienti. In: Cesko-Slovenska Pediatrie. 2005 ; Vol. 60, No. 6. pp. 324-331.
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