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NEUROLOGIA DZIECIĘCA

Pismo Polskiego Towarzystwa Neurologów Dziecięcych

PL ISSN 1230-3690
e-ISSN 2451-1897
DOI 10.20966
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Zespół Retta – postępy badań nad patogenezą


Rett Syndrome – progress of research on pathogenesis




Zakład Genetyki Klinicznej, Uniwersytetu Medycznego w Białymstoku

Neurol Dziec 2010; 19, 38: 55-63
Pełen tekst artykułu PDF Zespół Retta – postępy badań nad patogenezą



STRESZCZENIE
Zespół Retta (RTT) jest neurorozwojowym schorzeniem uwarunkowanym genetycznie, które charakteryzuje się współwystępowaniem szeregu objawów klinicznych, głównie ze strony układu nerwowego, układu pokarmowego i kostnego. Zaburzenia powstają jako wynik mutacji genu MECP2 z locus geni w Xq28, a w sporadycznych przypadkach na skutek mutacji innych genów: CDKL5 (STK9), NTNG, MEF2C lub FOXG1. Patogeneza RTT jest związana z nieprawidłową funkcją MeCP2, czynnika transkrypcyjnego działającego na geny docelowe w zależności od potrzeb homeostazy neuronalnej albo jako represor ich transkrypcji albo jako aktywator. Białko MeCP2 kontroluje wiele szlaków sygnałowych białek i przywrócenie ich funkcji może być wykorzystane do opracowania sposobów leczenia poszczególnych zaburzeń składających się na fenotyp RTT.

Słowa kluczowe: zespół Retta, MECP2, białko MeCP2, geny docelowe.


ABSTRACT
Rett syndrome (RTT) belongs to neurodevelopmental genetic disorders, which is characterised by a number of traits, mainly from neurological, gastro-intestinal and skeletal systems. This disorder is caused by MECP2 mutations in locus geni at Xq28 and sporadically due to mutations of other genes CDKL5 (STK9), NTNG1, MEF2C or FOXG1. Pathogenesis of RTT is connected with malfunctions of MeCP2 protein acting according to the needs of actual neuronal homeostasis as transcription repressor or as an activator of different target genes. MeCP2 protein controls many signalling pathways and uncovering their disturbances opens new possibilities for treatment in particular abnormalities of RTT phenotype.

Key words: Rett syndrome, MECP2, MeCP2 protein, target genes.


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