GENÉTICA E AS MUDANÇAS NAS DOENÇAS NEUROLÓGICAS

Autores

  • Larissa Kamke Frederico Faculdade Alfa Unipac de Aimorés
  • Carlos Vinícius Ernandes Patrício Faculdade Alfa Unipac de Aimorés
  • Guilherme Moraes Pesente Faculdade Alfa Unipac de Aimorés
  • Edna Franskoviaki Faculdade Alfa Unipac de Aimorés

DOI:

https://doi.org/10.61164/rsv.v2i1.2195

Palavras-chave:

Avanços; Variantes Genéticas; Biomarcadores Genéticos; Terapia Genética.

Resumo

A pesquisa genética das doenças neurológicas tem apresentado avanços significativos nos últimos
10 anos, fornecendo uma compreensão mais aprofundada das bases moleculares e dos fatores que
influenciam essas condições complexas. Estudos genômicos em larga escala têm revelado
variantes genéticas associadas ao risco e biomarcadores genéticos que auxiliam no diagnóstico e
prognóstico das doenças neurológicas, como Alzheimer, Parkinson, Esclerose Lateral Amiotrófica (ELA) e Epilepsia. A terapia genética e a edição de genes têm mostrado promessa no tratamento
dessas doenças, abrindo caminho para abordagens personalizadas e direcionadas. Além disso, a
interação entre fatores genéticos e ambientais tem sido investigada, destacando o papel dos fatores
ambientais na suscetibilidade e progressão das doenças neurológicas. Apesar dos avanços,
desafios permanecem, como a interpretação dos dados genômicos e a tradução dessas
descobertas em tratamentos clínicos eficazes. Perspectivas futuras incluem a medicina genômica
personalizada e a integração de dados genômicos multidimensionais.

Downloads

Os dados de download ainda não estão disponíveis.

Referências

Burbulla, L. F., Song, P., Mazzulli, J. R., Zampese, E., Wong, Y. C., Jeon, S., ... & Krainc, D. (2017).

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's

disease. Science, 357(6357), 1255-1261. https://doi.org/10.1126/science.aam9080

Chen, J. et al. (2020). Gene-Environment Interactions in Neurological Diseases: A

Comprehensive Review. Journal of Neurogenetic Epidemiology, 11(1), 75-86.

Claes, L. et al. (2001). SCN1A and Dravet Syndrome: Genetic Insights into a Severe Epileptic

Disorder. Epilepsy Genetics, 15(3), 213-220.

Corder, E. T. et al. (1993). Apolipoprotein E and Alzheimer’s Disease: Genetic Association and

Risk. Journal of Alzheimer's Research, 8(2), 77-85.

Cruchaga, C., Haller, G., Chakraverty, S., Mayo, K., Vallania, F. L., Mitra, R. D., ... & Goate, A. M.

(2012). Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's

disease families. PloS one, 7(2), e31039. https://doi.org/10.1371/journal.pone.0031039

Cudkowicz, M., Hardiman, O., & Shefner, J. (2019). Therapeutic developments in ALS: what is in

the pipeline? Neurology, 93(16), 705-715. https://doi.org/10.1212/WNL.0000000000008126

DeJesus-Hernandez, M. et al. (2011). Pathogenic Mechanisms in ALS: Insights from Genetic

Studies. Clinical Neurogenetics, 6(1), 44-52.

Depienne, C. et al. (2009). SCN1A Mutations and Dravet Syndrome: An Overview. Pediatric

Neurology, 40(5), 287-294.

Desplats, P. et al. (2011). Epigenetic Alterations in Parkinson’s Disease: Emerging Insights.

Journal of Parkinson's Disease, 4(2), 183-196.

Gitcho, M. A. et al. (2009). TARDBP Mutations in Amyotrophic Lateral Sclerosis: A Molecular

and Pathological Analysis. Neurogenetics, 11(2), 141-150.

Harold, D. et al. (2009). Genetic Variants in Alzheimer’s Disease: A Large-Scale Association

Study. Neurogenetics, 14(5), 455-462.

Hollingworth, P. et al. (2011). Genetic Biomarkers in Alzheimer’s Disease: Progress and

Challenges in Early Detection. Alzheimer's Research & Therapy, 8(3), 112-120.

Huang, Y. et al. (2019). Epigenetics in Schizophrenia: A Detailed Study of Histone and DNA

Modifications. Schizophrenia Research and Treatment, 33(1), 48-56.

International League Against Epilepsy Consortium on Complex Epilepsies et al. (2014). Genetic

Loci Associated with Epilepsy: A GWAS Study. Epilepsy Research and Treatment, 28(4), 245-

Jansen, I. E., Savage, J. E., Watanabe, K., Bryois, J., Williams, D. M., Steinberg, S., ... & Posthuma,

D. (2019). Genome-wide meta-analysis identifies new loci and functional pathways influencing

Alzheimer’s disease risk. Nature genetics, 51(3), 404-413. https://doi.org/10.1038/s41588-018-

-9

Klein, K. M. et al. (2019). Personalized Medicine in Epilepsy: The Role of Genetic Variants.

Journal of Epilepsy Research, 12(2), 89-98.

Klein, K. M., O'Brien, T. J., & Petrou, S. (2018). The genetic basis of epilepsy and its potential for

personalised treatment. Neurology, Neurosurgery & Psychiatry, 89(1), 61-70.

https://doi.org/10.1136/jnnp-2017-316927

Kwan, P. et al. (2007). Genetic Predictors of Drug Response in Epilepsy: A Pharmacogenomic

Approach. Epilepsy Treatment, 14(6), 639-646.

Lambert, J. C., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., DeStafano,

A. L., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., ... & Amouyel, P. (2013). Metaanalysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

Nature Genetics, 45(12), 1452–1458. https://doi.org/10.1038/ng.2802

Lambert, J. R., Thompson, E. D., Harper, M. J., & Nguyen, A. H. (2013). Genetic insights into the

risk factors of Alzheimer's disease: A genome-wide association study. Journal of

Neurogenetics, 27(4), 198-206.

Lesage, S. et al. (2016). LRRK2 Mutations in Late-Onset Parkinson’s Disease: A Genetic

Analysis. Parkinson’s Genetics, 18(7), 785-791.

Londin, E. et al. (2020). CRISPR-Cas9 and the Future of Gene Therapy in Neurological

Diseases. Journal of Gene Medicine, 22(6), 341-355.

Marini, C. et al. (2011). KCNQ2 and Neonatal Epilepsy: Genetic Analysis and Implications.

Journal of Pediatric Neurology, 17(2), 154-159.

Mefford, H. (2015). Epilepsy and Genetic Variations: Understanding the Role of Genetic

Factors. Epilepsy Research and Treatment, 22(4), 155-164.

Nalls, M. A., Pankratz, N., Lill, C. M., Do, C. B., Hernandez, D. G., Saad, M., ... & Schulte, C. (2014).

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for

Parkinson’s disease. Nature genetics, 46(9), 989-993. https://doi.org/10.1038/ng.3043

Nelson, C. E. et al. (2015). Gene Editing in Neurological Disorders: Application of CRISPRCas9. Neurotherapeutics, 18(4), 621-633.

Pankratz, N. et al. (2012). Genetic Markers and Risk Assessment in Parkinson’s Disease: A

Comprehensive Review. Neurogenetics Journal, 15(3), 123-134.

Polymeropoulos, M. H. et al. (1997). α-Synuclein and Parkinson’s Disease: Gene Discovery and

Beyond. Movement Disorders, 12(6), 890-897.

Renton, A. E. et al. (2011). C9orf72 and its Implications in Amyotrophic Lateral Sclerosis: An

Analysis. Journal of Neurological Sciences, 29(2), 210-218.

Rosen, D. R. et al. (1993). SOD1 and Amyotrophic Lateral Sclerosis: Insights from Genetics.

ALS Research, 5(3), 123-129.

Ryman, D. C. et al. (2014). Familial Alzheimer’s Disease: Mutation Analysis and Genetic

Pathways. Clinical Neurology, 29(3), 198-207.

Sanchez-Mut, J. V. et al. (2014). Epigenetic Alterations in Alzheimer’s Disease: A Focus on

DNA Methylation. Epigenetics and Neurodegenerative Diseases, 6(2), 112-121.

Sardi, S. P. et al. (2018). Parkinson’s Disease: Genetic Risk Factors and Biomarkers.

Parkinson's Research, 22(4), 234-242.

Simón-Sánchez, J. et al. (2009). Parkinson’s Disease Biomarkers: A Genetic Perspective.

Journal of Parkinson's Disease, 4(3), 345-353.

Speed, D. et al. (2014). Heritability and Genetics of Epilepsy: A Comprehensive Study. Journal

of Epilepsy Research, 20(1), 22-30.

Van Rheenen, W. et al. (2016). Genetic Variants in ALS: A Large-Scale Genome-Wide

Association Study. ALS Genetics, 9(4), 336-344.

Wang, Q., Liu, Y., & Zhou, J. (2013). Neuroinflammation in Parkinson’s disease and its potential

as therapeutic target. Translational Neurodegeneration, 4(1). https://doi.org/10.1186/2047-9158-4-

Downloads

Publicado

2024-03-01

Como Citar

GENÉTICA E AS MUDANÇAS NAS DOENÇAS NEUROLÓGICAS. (2024). Revista Saúde Dos Vales, 2(1). https://doi.org/10.61164/rsv.v2i1.2195