Skip to main content

Neurogenetics in Peru: clinical, scientific and ethical perspectives

Journal of Community Genetics volume 6, pages 251–257 (2015)Cite this article

Abstract

Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the clinical, scientific and ethical aspects regarding the development of this discipline, starting with the first molecular diagnosis of neurogenetic diseases, to family and population-based genetic association studies. Neurogenetics in Peru aims to better explain the epidemiology of monogenic and complex neurodegenerative disorders that will help in implementing public health policies for these disorders. The characterization of Peru and its health system, legal issues regarding rare diseases and the historical milestones in neurogenetics are also discussed.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

USD 39.95

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Fig. 1

References

  • Acosta-Baena N et al (2011) Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer’s disease: a retrospective cohort study. Lancet Neurol 10:213–220

    Article  CAS  PubMed  Google Scholar 

  • Almeida AM, Bertoncini CR, Borecky J, Souza-Pinto NC, Vercesi AE (2006) Mitochondrial DNA damage associated with lipid peroxidation of the mitochondrial membrane induced by Fe2+-citrate. An Acad Bras Cienc 78:505–514

    Article  CAS  PubMed  Google Scholar 

  • Alonso E et al (2007) Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord 22:1050–1053

    Article  PubMed  Google Scholar 

  • Brief E, Illes J (2010) Tangles of neurogenetics, neuroethics, and culture. Neuron 68:174–177

    Article  CAS  PubMed  Google Scholar 

  • Cardon LR, Palmer LJ (2003) Population stratification and spurious allelic association. Lancet 361:598–604

    Article  PubMed  Google Scholar 

  • Cornejo-Olivas M, Cornejo-Herrera I, Lindo-Samanamud S, Castilhos R, Saraiva-Pereira M, Jardim L, Mazzetti P (2013a) Spinocerebellar ataxia type 10 or SCA10 in Peruvian population. First report of three families paper presented at the AAN Annual Meeting Global Impact of Non-communicable Neurological Diseases, February 12,2014

  • Cornejo-Olivas M et al (2015) Clinical and molecular features of late onset Huntington disease in a Peruvian cohort. J Huntington’s Dis 4:99–105

    CAS  Google Scholar 

  • Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Zabetian CP, Mata IF (2013b) Variable penetrance of the LRRK2-R1441G mutation in a Peruvian family [abstract]. Paper presented at the MDS Congress 2014

  • Counseling AHCoG (1975) Genetic counseling. Am J Hum Genet 27:240–242

    Google Scholar 

  • Cuba JM (1986) A focus of Huntington’s chorea in Peru. Rev Neurol 142:151–153

    CAS  PubMed  Google Scholar 

  • Foundation Psd (2014) Linking PD genes in a LARGE way in Latin America vol Fall 2014. PDF

  • Group THsDCR (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72:971–983

    Article  Google Scholar 

  • Hawrylycz MJ et al (2012) An anatomically comprehensive atlas of the adult human brain transcriptome. Nature 489:391–399

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Hernandez-Vasquez A, Rubilar-Gonzalez J, Pisfil-Benites N (2014) Financing for rare or orphan diseases: a thing to do. Rev Peru Med Exp Salud Publica 31:393

    PubMed  Google Scholar 

  • Horovitz DD, de Faria Ferraz VE, Dain S, Marques-de-Faria AP (2013) Genetic services and testing in Brazil. J Community Genet 4:355–375

    Article  PubMed Central  PubMed  Google Scholar 

  • INDEPA (2010) Ethnolinguistic map of Peru. Revista Peru Med Exp Salud Publica 27:288–291

    Article  Google Scholar 

  • Kang PB (2013) Ethical issues in neurogenetic disorders. Handb Clin Neurol 118:265–276

    Article  PubMed  Google Scholar 

  • Loayza J (2005) La maldicion de Cañete vol 43. La Republica Lima, Peru

    Google Scholar 

  • Lotan A, Fenckova M, Bralten J, Alttoa A, Dixson L, Williams RW, van der Voet M (2014) Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders. Front Neurosci 8:331

    Article  PubMed Central  PubMed  Google Scholar 

  • McCarroll SA, Feng G, Hyman SE (2014) Genome-scale neurogenetics: methodology and meaning. Nat Neurosci 17:756–763

    Article  CAS  PubMed  Google Scholar 

  • Miller JA, Horvath S, Geschwind DH (2010) Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways. Proc Natl Acad Sci U S A 107:12698–12703

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Penchaszadeh VB (2013) Genetic testing and services in Argentina. J Community Genet 4:343–354

    Article  PubMed Central  PubMed  Google Scholar 

  • Posso M, Puig T, Bonfill X (2015) Balance entre riesgos y beneficios del tamizaje mamografico de cancer de mama ¿apoyaria su recomendacion en mujeres peruanas? Rev Peru Med Exp Salud Publica 32:117–128

    PubMed  Google Scholar 

  • Rodrigues CS et al (2012) Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing. J Genet Couns 21:101–112

    Article  PubMed  Google Scholar 

  • Saavedra A (1950) Sobre un caso de Corea de Huntington. Rev Neuropsiquiatria 2:232–239

    Google Scholar 

  • Sandoval JR, Salazar-Granara A, Acosta O, Castillo-Herrera W, Fujita R, Pena SD, Santos FR (2013) Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors. J Hum Genet 58:627–634

    Article  PubMed  Google Scholar 

  • Stephens C, Porter J, Nettleton C, Willis R (2007) UN declaration on the rights of indigenous peoples. Lancet 370:1756

    Article  PubMed  Google Scholar 

  • Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T (2011) Spinocerebellar ataxia type 10—a review. Parkinsonism Relat Disord 17:655–661

    Article  PubMed  Google Scholar 

  • Tirado-Hurtado I, et al (2014) Determination of the origin of Huntington disease based on haplotypes in a Peruvian population. Paper presented at the ASHG 2014 Meeting

  • Torres L, Cosentino C, Mori-Quispe N (2008) Actualizacion sobre la enfermedad de huntington y experiencia de 30 años en el Instituto Nacional de Ciencias. Neurologicas Diagnostico 47:65–69

    Google Scholar 

  • Trelles L, De los Angeles M (1989) La neurogenetica, pasado, presente y futuro. Rev Neuropsiquiatr 52:168–188

    Google Scholar 

  • Vaillant TZ (2000) Bioetica y neurogenetica. Cuad Bioet 11:360–366

    Google Scholar 

  • Valdez W, Napanga E, Oyola A, J M, A V, J M, M B (2013) Analisis de situacion de salud del peru vol 1, 1 edn. Ministerio de Salud Lima. Available at: http://www.minsa.gob.pe/hama/Informaci%C3%B3n_Hma/Indicadores/2012%20HMA%20ASIS.pdf; accessed on 02 Apr 2015

  • Velazquez-Perez L, Rodriguez-Labrada R, Garcia-Rodriguez JC, Almaguer-Mederos L, Cruz-Marino T, Laffita-Mesa JM (2011) A comprehensive review of spinocerebellar ataxia type 2 in Cuba. Cerebellum 10:184–198

    Article  PubMed  Google Scholar 

  • Velazquez Perez L et al (2009) Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett 454:157–160

    Article  CAS  PubMed  Google Scholar 

  • Yamada G, Castro J (2010) La economía peruana en la última década : mejor desempeño y mayor resiliencia a las crisis. 02:1-31

Download references

Acknowledgments

This review was scientifically supported by NIH Research Training Grant No R25 TW009345, funded by the Fogarty International Center, the National Institute of Mental Health, and the NIH Office of the Director Office of Research on Women’s Health and the Office of AIDS Research.

Conflict of interest

The authors declare that they have no competing interests.

Compliance with ethical standards

This article does not contain any studies with human or animal subjects performed by any of the authors.

Author information

Authors and Affiliations

  1. Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, 1271 Ancash Street, Barrios Altos, Lima, Peru

    Mario Cornejo-Olivas, Keren Espinoza-Huertas, Mario R. Velit-Salazar, Diego Veliz-Otani, Indira Tirado-Hurtado, Miguel Inca-Martinez, Gustavo Silva-Paredes, Karina Milla-Neyra, Victoria Marca, Olimpio Ortega & Pilar Mazzetti

  2. School of Medicine, Cayetano Heredia University, Lima, Peru

    Mario R. Velit-Salazar

  3. School of Medicine, Universidad Nacional Mayor de San Marcos, Lima, Peru

    Pilar Mazzetti

Authors
  1. Mario Cornejo-Olivas
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Keren Espinoza-Huertas
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mario R. Velit-Salazar
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Diego Veliz-Otani
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Indira Tirado-Hurtado
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Miguel Inca-Martinez
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Gustavo Silva-Paredes
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Karina Milla-Neyra
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Victoria Marca
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Olimpio Ortega
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Pilar Mazzetti
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mario Cornejo-Olivas.

Additional information

This article is part of the special issue on “Genetics and Ethics in Latin America”.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Cornejo-Olivas, M., Espinoza-Huertas, K., Velit-Salazar, M.R. et al. Neurogenetics in Peru: clinical, scientific and ethical perspectives. J Community Genet 6, 251–257 (2015). https://doi.org/10.1007/s12687-015-0239-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12687-015-0239-z

Keywords

  • Bioethics
  • Neurogenetics
  • Peru
  • Public policies