Abstract
Down syndrome (DS) results from the presence of an extra copy of genes on the long-arm of chromosome 21. Aberrant expression of these trisomic genes leads to widespread neurological changes that vary in their severity. However, how the presence of extra genes affects the physiological and behavioral phenotypes associated with DS is not well understood. The most likely cause of the complex DS phenotypes is the overexpression of dosage-sensitive genes. However, other factors, such as the complex interactions between gene products as proteins and noncoding RNAs, certainly play significant roles contributing to the spectrum of severity. Here we will review evidence regarding how the overexpression of one particular gene encoding for G-protein-activated inward rectifying potassium type 2 (GIRK2) channel subunit and its coupling to GABAB receptors may contribute to a range of mental and functional disabilities in DS. Show more
Publication status
publishedEditor
Book title
GABABReceptor Pharmacology: A Tribute to Norman BoweryJournal / series
Advances in PharmacologyVolume
Pages / Article No.
Publisher
Academic PressSubject
GIRK2 Knockout Trisomy 21; gene dosage; mental retardation; hippocampus; long-term potentiation; Ts65DnOrganisational unit
03739 - Stoffel, Markus / Stoffel, Markus
More
Show all metadata
ETH Bibliography
yes
Altmetrics