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Solo testo.pdf - Fondazione Santa Lucia

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Genetic, transcriptional and biochemical studies of the mitochondrial aspartate/glutamate…<br />

of intracellular calcium balance, potential pharmacologic interventions could<br />

be postulated and possibly experimented in animal models.<br />

Economic benefits – Based on current epidemiological data (8) , one can<br />

assume a European autistic population of at least 200,000 patients. Approximately<br />

75% are severely disabled and need institutional care for life, often<br />

including a person engaged full-time to supervise the patient. The total cost for<br />

autism in Europe can thus be estimated to exceed 4.4 billion euro/year. Assuming<br />

that early pharmacological and psychotherapeutic intervention would<br />

allow 10% of the patients to become independent from institutional care, this<br />

would bring a saving of 440 million euro/year.<br />

Scientific benefits – The identification of additional polymorphisms/mutations<br />

predisposing to or directly causing the disease will significantly contribute<br />

to our understanding of the neurobiological bases of social behaviors<br />

in humans and to the nature of their alteration in autistic disorder.<br />

1. Persico A.M., Bourgeron T. (2006) Searching for ways out of the autism maze:<br />

genetic, epigenetic, and environmental clues. Trends Neurosci, in press.<br />

2. Ramoz N., Reichert J.G., Smith C.J., Silverman J.M., Bespalova I.N.,Davis K.L.,<br />

Buxbaum J.D. (2004) Am J Psychiatry 161: 662-669.<br />

3. Segurado R., Conroy J., Meally E., Fitzgerald M., Gill M., Gallagher L. (2005) Am<br />

J Psychiatry 162: 2182-2184.<br />

4. American Psychiatric Association (1994) The Diagnostic and Statistical Manual of<br />

Mental Disorders, Fourth Edition, Washington D.C.<br />

5. Fombonne E. (2003) JAMA 289: 87-89.<br />

6. Folstein S.E., Rosen-Sheidley B. (2001) Nat Rev Genet 2: 943-955.<br />

7. Piven J., Palmer P., Jacobi D., Childress D., Arndt S. (1997) Am J Psychiatry 154:<br />

185-190.<br />

8. Buxbaum J.D., Silverman J.M., Smith C.J., Kilifarski M., Reichert J., Hollander E.,<br />

Lawlor B.A., Fitzgerald M., Greenberg D.A., Davis K.L. (2001) Am J Hum Genet 68:<br />

1514-1520.<br />

9. International Molecular Genetic Study of Autism Consortium (2001) Am J Hum<br />

Genet 69: 570-581.<br />

10. Shao Y., Wolpert C.M., Raiford K.L., Menold M.M., Donnelly S.L., Ravan S.A.,<br />

Bass M.P., McClain C., von Wendt L., Vance J.M., Abramson R.H., Wright H.H.,<br />

Ashley-Koch A., Gilbert J.R., DeLong R.G., Cuccaro M.L., Pericak-Vance M.A.<br />

(2002) Am J Med Genet 114: 99-105.<br />

11. Palmieri L., Pardo B., Lasorsa F.M., Del Arco A., Kobayashi K., Iijima M.,<br />

Runswick M.J., Walker J.E. Saheki T., Satrústegui J., Palmieri F. (2001) EMBO<br />

J 20: 5060-5069.<br />

12. Ramoz N., Bestel A., English D., Maussion G., Moalic J., Gorwood P., Simonneau M.,<br />

Buxbaum J.D. (2005) Expression and functional analysis of autism candidate genes:<br />

the aspartate/glutamate carrier AGC1 Program No. 448.6. Viewer/Itinerary Planner.<br />

Washington, DC: Society for Neuroscience. Online.<br />

13. Belmonte M.K., Cook E.H. Jr, Anderson G.M., Rubenstein J.L., Greenough W.T.,<br />

Beckel-Mitchener A., Courchesne E., Boulanger L.M., Powell S.B., Levitt P.R.,<br />

Perry E.K., Jiang Y.H., DeLorey T.M., Tierney E. (2004) Mol Psychiatry 9: 646-663.<br />

2006 697

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