Paolo Moretti, M.D.
Assistant Professor
of Neurology and Molecular & Human Genetics
Adjunct Assistant Professor
of Biochemistry and Cell Biology, Rice University
Medical School
M.D. (1990) University of Padua School of Medicine, Padua, Italy
Residency
Neurology, University of Michigan, Ann Arbor, MI
Fellowship
University of Padua School of Medicine, Italy
Columbia University, New York, NY
Clinical Genetics, Baylor College of Medicine, Houston, TX
Research Interests
The overall goal of my research program is to elucidate genetic and biochemical pathways of neuronal function and gene-environment interactions in the brain and to apply this knowledge to neurological disorders caused by dysfunction in these pathways. As model systems, we study Parkinson’s disease, a common neurodegenerative disorder that causes progressive motor disability in adults, and Rett syndrome, an autism spectrum disorder that generally affects 1-2 year-old girls.
Parkinson’s disease is a multifactorial neurological disorder. Several genes have been implicated in its pathogenesis and environmental factors have been shown to either cause parkinsonism (post-encephalitic parkinsonism and MPTP) or to be associated with an increased risk of Parkinson’s disease (rural living, pesticide use, well-water consumption and certain occupations). Lipid and vesicle dynamics, the ubiquitin–proteasome system, MAPKKK signaling, oxidative stress, mitochondrial function and microtubule stability have all been implicated in the pathogenesis of Parkinson’s disease. However, the relationships between these pathways remain to be elucidated. Furthermore, the molecular interactions between genetic and environmental factors are largely unknown, a key issue considering that the majority of Parkinson’s disease cases occur sporadically. We have taken a system-wide genetic approach to identify the interrelationship between pathways of molecular dysfunction in Parkinson’s disease. Our aim is the elucidation of the molecular pathogenesis of Parkinson’s disease and the design of preventative or neuroprotective treatment strategies.
Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the gene encoding Methyl-CpG binding protein 2 (MeCP2). Affected children have cognitive impairment, autistic manifestations and motor dysfunction. We have identified abnormalities in all three of these domains in Mecp2 308 mutant mice, demonstrating that these animals represent a faithful model of the human disorder. We are now pursuing the elucidation of genetic and cellular pathways affected by MeCP2 dysfunction and the identification of epigenetic strategies for modification of disease severity in Rett syndrome. MeCP2 is a DNA methylation-dependent transcriptional repressor and methyl donors such as folate and betaine modulate metastable DNA methylation. We have shown that dietary methyl donors modify disease severity in Mecp2 mutant mice improving general health, neurological function and survival. Studies are ongoing to reveal the mechanisms of pathogenesis and epigenetic modification of disease severity using a combination of genetic and molecular approaches.
Publications
- Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency. J Autism Dev Disord 2007;:.
- Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006;63:521-7.
- Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci 2006;26:319-27.
- Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006;16:276-81.
- Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet 2005;14:205-20.
- Moretti P, Hedera P, Wald J, Fink J. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov Disord 2005;20:245-7.
- Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 2005;64:1088-90.
- Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A 2004;124:392-6.
- Moretti P, Lieberman AP, Wilde EA, Giordani BI, Kluin KJ, Koeppe RA, Minoshima S, Kuhl DE, Seltzer WK, Foster NL. Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Neurology 2004;62:1865-8.
- Gruis KL, Moretti P, Gebarski SS, Mikol DD. Cerebellitis in an adult with abnormal magnetic resonance imaging findings prior to the onset of ataxia. Arch Neurol 2003;60:877-80.
- Moretti P, Shore D. Multiple interactions in Sir protein recruitment by Rap1p at silencers and telomeres in yeast. Mol Cell Biol 2001;21:8082-94.
- Marcand S, Buck SW, Moretti P, Gilson E, Shore D. Silencing of genes at nontelomeric sites in yeast is controlled by sequestration of silencing factors at telomeres by Rap 1 protein. Genes Dev 1996;10:1297-309.
- Ausoni S, Campione M, Picard A, Moretti P, Vitadello M, De Nardi C, Schiaffino S. Structure and regulation of the mouse cardiac troponin I gene. J Biol Chem 1994;269:339-46.
- Moretti P, Freeman K, Coodly L, Shore D. Evidence that a complex of SIR proteins interacts with the silencer and telomere-binding protein RAP1. Genes Dev 1994;8:2257-69.
- DeNardi C, Ausoni S, Moretti P, Gorza L, Velleca M, Buckingham M, Schiaffino S. Type 2X-myosin heavy chain is coded by a muscle fiber type-specific and developmentally regulated gene. J Cell Biol 1993;123:823-35.
- Sarzani R, Arnaldi G, De Pirro R, Moretti P, Schiaffino S, Rappelli A. A novel endothelial tyrosine kinase cDNA homologous to platelet-derived growth factor receptor cDNA. Biochem Biophys Res Commun 1992;186:706-14.
- Ausoni S, De Nardi C, Moretti P, Gorza L, Schiaffino S. Developmental expression of rat cardiac troponin I mRNA. Development 1991;112:1041-51.
- LaFramboise WA, Daood MJ, Guthrie RD, Schiaffino S, Moretti P, Brozanski B, Ontell MP, Butler-Browne GS, Whalen RG, Ontell M. Emergence of the mature myosin phenotype in the rat diaphragm muscle. Dev Biol 1991;144:15-Jan.
- LaFramboise WA, Daood MJ, Guthrie RD, Moretti P, Schiaffino S, Ontell M. Electrophoretic separation and immunological identification of type 2X myosin heavy chain in rat skeletal muscle. Biochim Biophys Acta 1990;1035:109-12.
Contact Information
Paolo Moretti, M.D.
Department of Neurology
Baylor College of Medicine
One Baylor Plaza, MS NB302
Houston, Texas 77030
Tel: 713-798-7573
Fax: 713-798-2723
Email: