Group leader: Filippo Tempia
Pathophysiology of genetic human spino-cerebellar ataxias
The experiments of our laboratory are aimed at discovering the mechanisms responsible for some rare human spinocerebellar ataxias (SCA), for which at present no therapy is available. Our lab contributed to the discovery of SCA28 and of SCA38 and we are currently studying their pathogenic mechanisms. Recently we started to investigate also SCA27. The final goal of our research is to identify mechanisms the can be targeted by specific therapies.
Our laboratory, in collaboration with Dr. Brusco (Genetics, Univ. of Torino), is studying the first animal model bearing the mutated AFG3L2 gene of a SCA28 patient. This research is financially supported by Telethon-Italy.
In collaboration with Dr. Borroni (Neurology, Univ. of Brescia), Dr. Brusco (Genetics, Univ. of Torino) and Dr. Caruso (Biochemistry, Univ. of Milano) we are starting a new study aimed at finding the mechanisms responsible for cerebellar deficits and cell degeneration in SCA38. Our part of the research concerns an animal model of SCA38, the ELOVL5 knock out mouse, in collaboration with Dr. Horton and Dr. Moon of the University of Texas Southwestern Medical Center in Dallas (TX, USA). This research is financially supported by Telethon-Italy.
In collaboration we Dr. Laezza of the University of Texas Medical Branch at Galveston (TX, USA) we are studying the alterations of cerebellar mechanims in an animal model of SCA27.
In both models of SCA28 and of SCA38 we are investigating motor symptoms, cell types affected by the disease, neurodegeneration of cerebellar neurons, functional deficits in synaptic transmission and in the generation of nerve impulses. In the model of SCA27 we are studying the synaptic deficits in the cerebellar cortex and the other symptoms correlated to neuropsychiatric disorders.
Animal models of neuropsychiatric diseases
These lines of research are aimed at finding the cellular and molecular mechanisms of autism spectrum disorders (ASD), schizophrenia and mood disorders.
In a research led by the lab of Dr. Daniela Carulli (Neuroscience Institute Cavalieri Ottolenghi) we are studying a mouse model in which the PTEN gene (whose mutation is associated with ASD) was selectively knock out in cerebellar Purkinje cells.
In collaboration with Dr. Laezza of the University of Texas Medical Branch at Galveston (TX, USA) we are studying the cognitive dysfunctions and the cerebral alterations of the Fgf14 knock out mouse, as a model of schizophrenia.
The same animal model with schizophrenic traits (Fgf14 knock out mouse) also displays alterations of mood. We are involved in a large study on these aspects in collaboration with Dr. Laezza and Dr. Green of the University of Texas Medical Branch at Galveston (TX, USA) and with Dr. D'Ascenzo of the Catholic University of Rome (Italy).
Propagation of Neuronal Damage to Embryonic Grafts Transplanted in the Hippocampus of Murine Models of Alzheimer's Disease
Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38