Dra. Mariz Vainzof

Dra. Mariz Vainzof

Graduate in Biology, Department of Biology, IB-USP (1977), MSc in genetics, Department of Biology, IB-USP (1983), Ph.D. in Department of Genetics, IB-USP (1989). Training in the laboratory of the Department of genetics, The Hospital for Sick Children, Toronto – Canada. Coordinator: Dr. Ronald Worton, November/December, 1989. Associate professor- Department of Genetics and Evaluative biology, Biosciences Institute, University of Sao Paulo, Head of the Muscle Protein Laboratory from the Center for the study of the Human Genome, IB, University of São Paulo. Member of International Consortium on Nemaline Myopathy, International Standard of Care Committee for Congenital Myopathies, and several other international and national organizations involved in muscle research. Member of the executive board of Muscle World Society.


Research Profile
The main research objectives of the Laboratory of Muscle Proteins and Comparative Histopathology include analysis of proteins involved in the function of normal and degenerated muscle. These studies aim to assess the presence, localization and organization of protein complexes which correlate with phenotypic differences observed in various forms of human progressive muscular dystrophy and also in animal models for the same diseases. Currently, the lab is particularly interested in understanding how protein alterations lead to phenotypic variability and is, investigating factors including: protein interaction: activation of other genes that might explain such variation and possibly lead to alternative avenues of therapy: glycosylation of proteins such as alpha-dystroglycan that can lead to several forms of hereditary muscle disease. Other lines of research concern studies of genes regulating muscle development including myostatin, a negative regulator of muscle growth and differentiation. The human studies are being paralleled by work on animal models. New murine models, with multiple deficiencies of muscle proteins are being produced for the completion of pathophysiological studies, and to test putative therapies. Towards this end the laboratory is mainly using murine adult stem cells extracted from murine bone marrow and adipose tissue to inject mice deficient for several muscle proteins to verify whether the stem cells can develop into normally functioning muscle cells and express normal protein(s) at therapeutic levels. There are 2 MScs, 4 PhDs and 3 Postdocs involved in this work.


Diagnostic and counselling activities
As an Extension Service, the laboratory offers differential diagnosis of all common forms of muscular dystrophy and congenital myopathy through DNA testing and protein analyses of muscle biopsies.


Total number: 131. H index = 29 (jan/2013)


5 favorite publications
Vainzof, M., Zubrzycka-Gaarn, E.E., Rapaport, D., Passos-Bueno, M.R., Pavanello, R.C., Pavanello-Filho, I. and Zatz, M. (1991) Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein. J Neurol Sci, 101, 141-147.

Bonnemann, C.G., Passos-Bueno, M.R., McNally, E.M., Vainzof, M., de Sa Moreira, E., Marie, S.K., Pavanello, R.C., Noguchi, S., Ozawa, E., Zatz, M. and Kunkel, L.M. (1996) Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet, 5, 1953-1961.

Nigro, V., de Sa Moreira, E., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R. and Zatz, M. (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet, 14, 195-198.

Vainzof, M., Passos-Bueno, M.R., Canovas, M., Moreira, E.S., Pavanello, R.C., Marie, S.K., Anderson, L.V., Bonnemann, C.G., McNally, E.M., Nigro, V., Kunkel, L.M. and Zatz, M. (1996) The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet, 5, 1963-1969.

Moreira, E.S., Wiltshire, T.J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O.T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M.R. and Jenne, D.E. (2000) Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet, 24, 163-166.


5 favorite recent publications:
1. Onofre-Oliveira, P. C. Ga.; Martins, P. M.a; Ayub-Guerrieri, D.a; Vainzof, M. Differential expression of genes involved in the degeneration and regeneration pathways in mouse models for muscular dystrophies. Neuromolec Med;14(1):74-83, 2012.

2. Gurgel-Giannetti Zanotelli E, Concentino ELC, Pesquero JB , Abath Neto O, Reed UC, Vainzof M. Necklace fibers, histopathological finding in a patient with severe form of X-linked myotubular myopathy. Neuromuscul Disord. 2012 Jun;22(6):541-5.

3. Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Enrico Bertini, Carsten Bonnemann, Nigel Clarke, Caroline Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan. Consensus Statement on Standard of Care for Congenital Myopathies. J Child Neurol, 27 (3): 363-82, 2012.

4. Nancy Mokbel, Bilijana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy Jeffries, Minttu Marttila, Vilma Lehtokari, Elina Lemola, Mikaela Grönholm, Nan Yang, Dominique Menard, Pascale Marcorelles, Andoni Echaniz-Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen Nowak, Nigel Laing, Carina Wallgren-Pettersson, Jill Trewhella, Steve Marston, Coen Ottenheijm, Kathryn N. North, Nigel F. Clarke. K7del is a common TPM2 nemaline myopathy mutation associated with raised myofibre Ca2+ sensitivity. Brain 136: 494-507, 2013.

5. Martins PC, Ayub-Guerrieri D, Martins-Bach AB, Onofre-Oliveira P. Malheiros JM, Tannus A, Loureiro OS, Carlkier P, Vainzof M. mdx/largemyd:  a new mouse model for neuromuscular diseases helping to study physiopathological mechanism and testing therapies.  (Disease Models & Mechanisms (DMM), 2013.