Cilia and Ciliopathies.
Primary cilia are cell type-specific antennae whose transduction of chemical, mechanical or optical signals is essential for human embryonic development and postnatal life.
Cilia-dependent processes in our bodies include, among others: vision, hearing, smell, cognition, motor control, kidney function, food intake, and the development of skeleton, heart and nervous system.
Ciliopathies are genetic diseases caused by cilia malfunction. Most ciliopathies are rare diseases affecting multiple organs. This is the case of Joubert-Boltshauser syndrome (JBTS), which affects 1 in 100.000 people and is associated with motor and cognitive deficits, kidney disease, retinal degeneration, and polydactyly.
JBTS can be caused by mutations in at least 40 different genes, all of which encoding proteins implicated in ciliary function. However, how these proteins work together to cause JBTS is not well understood. We know that about half of these proteins are required for the ciliary accumulation of INPP5E, a phosphoinositide phosphatase that controls the lipid composition of the ciliary membrane. The mystery now is how INPP5E functionally relates to the remaining JBTS proteins. Our recent discovery that INPP5E regulates posttranslational modifications of ciliary microtubules, as do several other JBTS genes, provides an important clue in this regard, a clue that you can follow if you choose this TFM.
Recent lab publications:
Francesc García Gonzalo.
Correo electrónico: francesc.garcia@uam.es.
Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM).
Número de plazas ofertadas: 1.
Facultad de Medicina. Universidad Autónoma de Madrid. Calle del Arzobispo Morcillo 4. 28029 Madrid. Tel.: +34 914 975 486. Correo electrónico: informacion.medicina@uam.es
