elsa.rocha

Elsa Bronze da Rocha
Assistant Professor
Non-applicable
Research Group
Drugs Targets & Biomarkers
Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia da Universidade do Porto (FFUP)
220 428 500
- ext 568
226 930 390
Research Interests
I have been focused in the identification and characterization of mutations that affect dystrophin, dysferlin, LAMA2, and fukutin genes, respectively, in patients with Duchenne Muscular Dystrophy (DMD), limb-girdle muscular dystrophy type 2B (LGMD2B), congenital muscular dystrophy type 1A (MDC1A), the most frequent form of congenital muscular dystrophy (CMD), and Fukuyama congenital muscular dystrophy (FCMD), the second most common form of CMD, to establish the correlation between muscle pathology with the respective gene mutations, duplications and gross rearrangements to provide insight into the clinical heterogeneity presented by patients and the inter and intra-familial variability.

Other focus is related with Gilbert Syndrome (SG) an autosomal recessive disease characterized by unconjugated hyperbilirubinemia and associated to mutations in the “major” UGT1A1 (UDP-glucuronosyltransferase 1A1) gene. In GS patients, as well as in normal subjects, we are evaluating the influence of genetic and acquired factors that interfere with serum bilirubin levels, as well as the functional impact of UGT1A1 nsSNPs by bioinformatics tools using sequence-based methods and approaches combining sequence and structure, in order to explain the inter-individual variations of bilirubin levels.

Recently, we started the study of “The importance of microRNAs (miRNAs or mIRs) as biomarkers of risk in hemodialysis patients” which aims to evaluate the relationship between the state of inflammation, severity of anemia, degree of cytogenotoxicity and expression of miRs in hemodialysis patient’s, and controls. We will focus on miR-146a, miR-155 and miR-210, and their importance in the regulation of myeloid differentiation (miR-146a), erythroid (miR-155) and normoxia/hypoxia (miR-210). Our aim is to search for a relationship between the state of inflammation, severity of the anemia, resistance to rhEPO, level of cytogenotoxicity and the expression profile of these miRs as potential biomarkers or predictors of morbidity/mortality in hemodialysis patients.
Main publications

1. Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E. “LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients”. Clinical Genetics 74: 502-512, 2008.

2. Fernandes JC, Borges M, Nascimento H, Bronze E, Ramos OS, Belo L, Pintado ME, Malcata FX, Santos-Silva A. “Evaluation of the cytotoxicity and genotoxicity of chitooligosaccharides Advances in Chitin Science 11: 412-416, 2009.

3. Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E. “Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51”. Journal of Human Genetics 55: 546-549, 2010.

4. Bronze-da-Rocha E, Lin C-M, Shimura T, Aladjem MI. “Interactions of MCP1 with components of the replication machinery in mammalian cells”. International Journal of Biological Sciences 7: 193-208, 2011.

5. Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrão L, Panuncio A, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Lévy N, Rodriguez MM. “Novel ancestral dysferlin splicing mutation which migrated from the Iberian peninsula to South America”. Neuromuscular Disorders 21: 328-337, 2011.

6. Fernandes JC, Borges M, Nascimento H, Bronze-da-Rocha E, Ramos OS, Pintado ME, Malcata FX, Santos-Silva A. “Cytotoxicity and genotoxicity of chitooligosaccharides upon lymphocytes”. International Journal of Biological Macromolecules 49, 433-438, 2011.

7. Rodrigues C, Costa E, Vieira E, Carvalho J, Santos R, Rocha-Pereira P, Santos-Silva A, Bronze-da-Rocha E. “Bilirubin is mainly dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index”. American Journal of the Medical Sciences 343: 114-118, 2012.

8. Rodrigues R, Vieira E, Santos R, Carvalho J, Santos-Silva A, Costa E, Bronze-da-Rocha E. “Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert Syndrome patients and in healthy subjects”. Blood Cells Molecules and Diseases 48, 166-172, 2012.

9. Bronze-da-Rocha E, Nóvoa A, Teixeira N, Vasconcelos CS, Conceição Cerveira C, Castro-e-Melo J, Carvalho MC. “Evaluation of the reactivity of sera from patients with Systemic Lupus Erythematosus against the human MCP1”. Journal of Clinical Immunology 32: 721-728, 2012.

10. Rodrigues C, Vieira E, Santos R, Carvalho J, Santos-Silva A, Costa E, Bronze-da-Rocha E. “Variantes no gene UGT1A1 que condicionam os níveis de bilirrubina”. Este artigo foi escrito a convite de Salud Ciencia, órgão oficial da Sociedad Iberamericana de Información Científica (SIIC), a fim de dar destaque ao artigo Rodrigues C et al., “Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert Syndrome patients and in healthy subjects”, publicado na revista Blood Cells Molecules and Diseases, 2012, 48(3): 166-172. Foi publicado na Internet, no “site” da SIIC (http://www.siicsalud.com), Agosto 2012.

11. Rodrigues C, Rocha E, Nascimento H, Vieira E, Santos R, Santos-Silva A, Costa E, Bronze-da-Rocha E. ”Bilirubin levels and redox status in a young healthy population” Acta Haematologica 130: 57-60, 2013.

12. Silva FSG, Oliveira H, Moreiras A, Fernandes JC, Bronze-da-Rocha E, Figueiredo A, Custódio JBA, Rocha-Pereira P, Santos-Silva A. “The in vitro and in vivo genotoxicity of isotretinoin assessed with cytokinesis blocked micronucleus assay and comet assay”. Toxicology in Vitro 27: 900-907, 2013.

13. Silva FSG, Oliveira H, Moreiras A, Fernandes JC, Bronze-da-Rocha E, Figueiredo A, Custódio JBA, Rocha-Pereira P, Santos-Silva A. “Cyto- and genotoxic effects of acitretin alone or combined with psoralen-ultraviolet A and narrowband ultraviolet B therapy in psoriatic patients”. Mutation Research 753: 42-47, 2013.

14. Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I. “A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene” Neuromuscular Disorders 23: 557-561, 2013.

15. Faria MS, Ribeiro S, Costa E, Mendonça M, Teixeira L, Rocha-Pereira P, Fernandes J, Nascimento H, Kohlova M, Reis F, Amado L, Bronze-da-Rocha E, Miranda V, Quintanilha A, Belo L, Santos-Silva A. “Risk factors for mortality in hemodialysis patients - two years follow-up study”. Disease Markers 35: 1-8, 2013.

16. Kohlova M , Sameiriro-Faria M, Rocha-Pereira P, Fernandes J, Reis F, Quintanilha, A Belo, L, Bronze-Rocha E, Costa E, Santos-Silva A. “Circulating cell-free DNA levels in haemodialysis patients and its association with inflammation, iron metabolism and rhEPO doses”. Hemodialysis International 17: 664-667, 2013.

17. do Sameiro-Faria M, Sandra Ribeiro S, Petronila Rocha-Pereira P, Fernandes J, Reis F, Bronze-da-Rocha E, Miranda V, Quintanilha A, Costa E, Belo L, Santos-Silva A. “Body mass index and resistance to recombinant human erythropoietin therapy in maintenance hemodialysis patients”. Renal Failure 35: 1392-1398, 2013.

18. Costa E , Fernandes J, Ribeiro S, Sereno J, Garrido P, Rocha-Pereira P, Coimbra S, Catarino C, Belo L, Bronze-da-Rocha E, Alves R, Reis F, Alice Santos-Silva A. “Aging is Associated with Impaired Renal Function, INF-gamma Induced Inflammation and with Alterations in Iron Regulatory Proteins Gene Expression”. Aging and Disease 5: 356-365, 2013.

19. Faria MS, Ribeiro S, Costa E, Mendonça M, Teixeira L, Rocha-Pereira P, Fernandes J, Nascimento H, Kohlova M, Reis F, Amado L, Bronze-da-Rocha E, Miranda V, Quintanilha A, Belo L, Santos-Silva A. “Risk factors for mortality in hemodialysis patients - two years follow-up study”. Disease Markers 35: 791-798, 2013.

19. Belo L, Henrique Nascimento H, Kohlova M, Bronze-Rocha E, Fernandes J, Costa E, Catarino C; Aires L, Mansilha HF, Petronila Rocha-Pereira P, Quintanilha A, Rêgo C, Santos-Silva A. “Body fat percentage is a major determinant of total bilirubin levels independently of UGT1A1*28 polymorphism in obese children and adolescents”. PLoS One 9: e98467, 2014.

20.Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T. “Atypical phenotype in two patients with LAMA2 mutations”. Neuromuscular Disorders 24: 419-24, 2014.

21. Santos R, Gonçalves A, Oliveira J, Vieira E, Vieira JP, Evangelista T, Moreno T, Santos M, Fineza I, Bronze-da-Rocha E. “New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy”. Journal of Human Genetics 59: 454-464, 2014.

22. Bronze-da-Rocha E. “MicroRNAs expression profiles in cardivascular diseases”. BioMed Research International 2014, Article ID 985408-85431, 2014.

23. do Sameiro-Faria M, Kohlova M, Sandra Ribeiro S, Rocha-Pereira P, Teixeira L, Henrique Nacimento H, Reis F, Miranda V, Bronze-da-Rocha E, Quintanilha A, Belo L, Costa E, Santos-Silva A. “Potential cardiovascular risk protection of bilirubin in end-stage renal disease patients under hemodialysis”. BioMed Research International Article ID175286, 2014.

24. Oliveira J, Gonçalves A, Oliveira ME, Fineza I, Rita CM, Pavanello RCM, Vainzof M, Bronze-da-Rocha E, Santos R, Sousa M. “Reviewing large LAMA2 deletions and duplications in Congenital Muscular Dystrophy patients”. Journal of Neuromuscular Diseases 1: 169-179, 2014.

25. Garrido P, Ribeiro S, Fernandes J, Vala H, Bronze-da-Rocha E, Rocha-Pereira P, Belo L, Costa E, Santos-Silva A, Reis F. "Iron-hepcidin dysmetabolism, anaemia and renal hypoxia, inflammation and fibrosis in the remnant kidney rat model". Plos One 10: e0124048, 2015.

26. Gomes D, Lima M, Bronze-da-Rocha E, Santos-Silva A, Rocha S. “Peroxiredoxin 2, Glutathione Peroxidase and Catalase in the cytosol and membrane of erythrocytes under H2O2-induced oxidative stress”. Free Radical Research 19: 1-33. 2015.

27. Nascimento H, Alves AI, Coimbra S, Catarino C, Gomes D, Bronze-da-Rocha E, Costa E, Rocha-Pereira P, Aires L, Mota J, Mansilha HF, Rêgo C, Alice Santos-Silva A, Belo L. “Bilirubin is independently associated with oxidized LDL levels in young obese patients”. Diabetology & Metabolic Syndrome 7: 4, 2015.

28.Bronze-da-Rocha E, Lin C-M, Aladjem MI. “The biochemical interplay between MCP1 and ATR”. International Journal of Biotech Trends and Technology 12: 1-6, 2015.

29. Rodrigues C, Santos-Silva, A, Costa, E, Bronze-da-Rocha E. “Performance of in silico tools for evaluating UGT1A1 missense variants”. Human Mutation 36: 1215-1225, 2015.

30. . Garrido P, Ribeiro S; Fernandes J; Vala H; Rocha-Pereira P; Bronze-da-Rocha E; Belo L; Costa E, Santos-Silva A, Reis F. “Resistance to Recombinant Human Erythropoietin Therapy in a Rat Model of Chronic Kidney Disease Associated Anemia”. International Journal of Molecular Sciences 17: 28-50, 2015.

Capítulos de Livros
1. Elsa Bronze-da-Rocha e Arnaldo Videira. “Noções de Genética”, pp 220-259, 2010, do livro “Microbiologia”- Lidel Edições Técnicas.

2. Elsa Bronze-da-Rocha: “miRNAs and erythropoietic stimulating agents: a new therapeutic approach”, pp 43-60, 2013, do livro Frontiers in Drug Discovery - Erythropoietic Stimulating Agents.