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Defects in Synaptic Structure and Function as a Mechanism responsable for Mental Retardation

English title Defects in Synaptic Structure and Function as a Mechanism responsable for Mental Retardation
Applicant Boda Bernadett
Number 106193
Funding scheme Marie Heim-Voegtlin grants
Research institution Dépt des Neurosciences Fondamentales Faculté de Médecine Université de Genève
Institution of higher education University of Geneva - GE
Main discipline Molecular Biology
Start/End 01.04.2005 - 31.03.2006
Approved amount 104'956.00
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Keywords (6)

mental retardation; PAK3; spine; transfection; confocal; imaging

Lay Summary (English)

Lead
Lay summary
The recent identification of mutated genes in various X-linked forms ofthe mental retardation has opened new ways to investigate the molecularmechanisms implicated in cognitive functions. The roles of these mentalretardation (MRX) genes are poorly understood. In this project, we proposeto investigate the mechanisms through which two of the genes, PAK3 andARHGEF6, result in cognitive dysfunction. In particular, we would like totest whether and how PAK3 and ARHGEF6 affect synaptic development,plasticity and function in hippocampal organotypic cultures.
To this purpose, different constructs carrying the mutated MRX genes willbe transfected into hippocampal neurons. Cotransfection with the greenfluorescent protein will allow us to visualize live neurons over timeusing confocal imaging and analyze the morphological features of thesegenetically modified neurons. We will carry out ultrastructural analysisof these MRX synapses using photoconversion method coupled to electronmicroscopy. Functional analysis of the MRX cells will be done by wholecell patch clamp electrophysiological technique.
These results are expected to help us elucidate crucial parametersimportant for an appropriate development of the synaptic networks thatunderlie cognitive functions.
Direct link to Lay Summary Last update: 21.02.2013

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