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Dipartimento di Scienze Mediche

Laurea Magistrale in Medicina e Chirurgia - sede di Torino

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Filippo Tempia

Professore/Professoressa ordinario/a

Contatti

Presso

  • Department of Neurosciences "Rita Levi Montalcini"
  • Dipartimento di Neuroscienze "Rita Levi Montalcini"
  • Biotechnology for Neuroscience
  • Corso di Laurea in Biotecnologie
  • Corso di Laurea Magistrale in Biotecnologie Mediche - Classe LM-9
  • Laurea Magistrale in Medicina e Chirurgia - sede di Torino
  • Master Program in Molecular Biotechnology
  • MedInTO Medicine and Surgery
  • Programma MD-PhD della Scuola di Medicina

Curriculum vitae

  • Curriculum Vitae (0.2 MB)

    • Insegnamenti

    Temi di ricerca

    • Pathophysiology of genetic human spino-cerebellar ataxias  

      Main goal

      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.

      Experimental models

      SCA28

      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.

       SCA38

      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.

      SCA27

      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.

       

      Projects

      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.

    Publications on SCA28:

     Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F (2010) Mouse brain expression patterns of Spg7, Afg3l1, and transcripts, encoding the mitochondrial Afg3l2m-AAA protease. BMC Neuroscience 11:55 (doi: 10.1186/1471-2202-11-55).

     Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature Genetics 42: 313-331 (doi:10.1038/ng.544).

     Di Bella D, Lazzaro F, Brusco A, Battaglia G, Pastore A, Finardi A, Fracasso V, Plumari M, Cagnoli C, Tempia F, Brussino A, Gellera C, Mariotti C, Pievani P, Di Donato S, Langer T, Muzi-Falconi M, Taroni F (2008) AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum. Presented at the annual meeting of The American Society of Human Genetics, November 14, 2008, Philadelphia, Pennsylvania; Abstract program number 216.

     Di Bella D, Lazzaro F, Brusco A, Battaglia G, Pastore A, Finardi A, Fracasso V, Plumari M, Cagnoli C, Tempia F, Brussino A, Gellera C, Mariotti C, Plevani P, Di Donato S, Langer T, Muzi-Falconi M, Taroni F (2009) AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum. Nineteenth Meeting of the European Neurological Society 20–24 June 2009, Milan, Italy. J Neurol 256 (Suppl 2): S53, Abstract O141.

     Mancini C, Roncaglia P, Stevanin G, Durr A, Brussino A, Cagnoli C, Krmac H, Limongi T, Montarolo F, Hoxha E, Turco E, Messana E, Altruda F, Gustincich S, Tempia F, Brusco A (2011) Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease. XVI Scientific Convention Telethon, Riva del Garda, 7-9 marzo 2011. Abstract 118, p. 78.

     E. Hoxha, C. Mancini, F. Montarolo, D. I. Gondor Morosini, V. Nicolò, A. Brusco, F. Tempia Functional alterations of the first Afg3l2 knockin mouse harboring a SCA28 mutation. 45th annual meeting of the Society for Neuroscience, Chicago, USA. Abstract.

      

    Publications on SCA38:

     Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A,Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. (2014) ELOVL5 Mutations Cause Spinocerebellar Ataxia 38. Am J Hum Genet 95: 209-217. pii: S0002-9297(14)00310-3. doi: 10.1016/j.ajhg.2014.07.001.

     

    Publications on SCA27:

     Tempia F, Negro G, Alshammari MA, Alshammari TK, Laezza F (2014) Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. 44rd annual meeting of the Society for Neuroscience, Washington DC, USA. Abstract.

     Tempia F, Hoxha E, Negro G, Alshammari MA, Alshammari TK, Panova-Elektronova N and Laezza F (2015) Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. Front. Cell. Neurosci. 9:205. doi: http://dx.doi.org/10.3389/fncel.2015.00205

     

    •  Animal models of neuropsychiatric diseases

      Main goal
      These lines of research are aimed at finding the cellular and molecular mechanisms of autism spectrum disorders (ASD), schizophrenia and mood disorders.


      Experimental models


      ASD
      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.

       

      Schizophrenia

      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.

       

      Mood disorders

      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).

      

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