Prof. Mayana Zatz


Our research focus mainly neuromuscular disorders aiming: a) mapping and characterization of new genes responsible for these disorders; b) the identification of pathogenic mutations and their effect on gene expression, on the correspondent protein and on the phenotype; c) the identification of modifying genes or other epigenetic factors which modulate de effect of pathogenic mutations; d) To assess the use of stem cells from cord blood and placenta for therapeutical purposes . We are also studying susceptibility genes for psychiatric or behavior disorders such as alcoholism or Alzheimer disease .

Publications

1. Zatz M, Marie SK, Passos-Bueno MR, Campiotto S, Cerqueira A, Vainzof M, Wijmenga C, Padberg G, Frants R (1995). High proportion of new mutations and possible anticipation following genetic molecular studies in Brazilian facioscapulohumeral muscular dystrophy (FSHD) families . Am.J.Hum.Genet. 56:99-105.

2. Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (1996): Linkage analysis in autosomal recessive muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of ARLGMD. Hum. Molec. Genet 5: 815-820.

3. Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR& Zatz M (1996) The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the d-sarcoglycan gene. Nat. Genet. 14:195-196.

4. Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RCM, Marie SK, Anderson LVB, Bonneman CG, McNally E, Nigro V, Kunkel LM, Zatz M (1996) The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum. Molec. Genet. 5 (12): 1963-1970.

5. Zatz M, Vainzof M, Passos-Bueno MR (2000) Limb-girdle muscular dystrophy: one gene with different phenotypes; one phenotype with different genes. Current Opinion in Neurology: 13:511-517.