The Scottish Healthcare Genetics
Public Engagement Network
Events in June 2012
Monday June 11th to Wednesday June 13th 2012
University College Cork, RoI
Rab GTPases and their interacting proteins in health and disease
Rab GTPases localise to distinct cellular organelles and regulate all stages of intracellular membrane trafficking in eukaryotic cells. Their activity state and functional effects are controlled and or mediated by several interacting proteins, including guanine nucleotide exchange proteins, GTPase Activating proteins, effector and motor proteins. Rab GTPase function is essential for a vast range of normal cellular physiological processes, ranging from Long Term Potentiation (LTP) to cellular uptake of glucose in response to insulin signalling.
In recent years, Rabs, or their interactors, have been implicated in a wide range of genetic diseases. Some examples include choroideremia, Niemann-Pick disease, Griscelli syndrome, cancer aggressiveness, Charcot-Marie-Tooth disease, X-linked mental retardation, Huntingtin’s disease, Alzheimer’s disease, Batten’s disease, osteopetrosis, Crohn’s disease, diabetic nephropathy, cardiomyopathy, Carpenter’s syndrome, Sjogren’s syndrome and platelet disorders.
Furthermore, they are implicated in a lengthening list of host/pathogen diseases involving viruses, bacteria and parasitic pathogens. Some examples of viral infections include; Influenza-, Dengue-, West Nile-, Foot & mouth-, Coxsackie-, Encephalitis-, Hepatitis C-, Respiratory Syncytial- , Measles-, Hantavirus and Human Immunodeficiency Virus. Examples of bacterial infections with which Rabs have been connected include Chlamydia, Brucella, Salmonella, Listeria, Helicobacter, Mycobacteria. Parasitic conditions with which the Rabs have been connected include Trypanosoma cruzei and brucei.
The meeting will bring together researchers who work on the functional characterization of Rabs and / or their interacting proteins in either normal cellular physiology (health) or in diseases.