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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Pyruvate Kinase Deficiency in Sub-Saharan Africa: Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria
PLoS ONE, Volume 7, No. 10, Article e47071, Year 2012
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Description
Background: Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far. This work shows the results of a study undertaken to determine PK deficiency occurrence in some sub-Saharan African countries, as well as finding a prevalent PK variant underlying this deficiency. Materials and Methods: Blood samples of individuals from four malaria endemic countries (Mozambique, Angola, Equatorial Guinea and Sao Tome and Principe) were analyzed in order to determine PK deficiency occurrence and detect any possible high frequent PK variant mutation. The association between this mutation and malaria was ascertained through association studies involving sample groups from individuals showing different malaria infection and outcome status. Results: The percentage of individuals showing a reduced PK activity in Maputo was 4.1% and the missense mutation G829A (Glu277Lys) in the PKLR gene (only identified in three individuals worldwide to date) was identified in a high frequency. Heterozygous carrier frequency was between 6.7% and 2.6%. A significant association was not detected between either PK reduced activity or allele 829A frequency and malaria infection and outcome, although the variant was more frequent among individuals with uncomplicated malaria. Conclusions: This was the first study on the occurrence of PK deficiency in several areas of Africa. A common PKLR mutation G829A (Glu277Lys) was identified. A global geographical co-distribution between malaria and high frequency of PK deficiency seems to occur suggesting that malaria may be a selective force raising the frequency of this 277Lys variant. © 2012 Machado et al.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3474807/bin/pone.0047071.s001.docx
Authors & Co-Authors
Machado, Patrícia
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Manco, Licínio
Portugal, Coimbra
Universidade de Coimbra, Centro de Investigação em Antropologia e Saúde
Gomes, Cláudia
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Mendes, Cristina
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Fernandes, Natércia
Mozambique, Maputo
Universidade Eduardo Mondlane
Salomé, Graca
Mozambique, Maputo
Universidade Eduardo Mondlane
Sitoe, Luis
Mozambique, Maputo
Universidade Eduardo Mondlane
Chibute, Sérgio
Mozambique, Maputo
Universidade Eduardo Mondlane
Langa, José Paulo M.
Mozambique, Maputo
Hospital Central de Maputo
Ribeiro, Letícia
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Miranda, Juliana
Angola, Luanda
Hospital Pediátrico David Bernardino
Cano, Jorge
Spain, Madrid
Centro Nacional de Medicina Tropical
Pinto, João
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Amorim, Antonio
Portugal, Porto
Universidade do Porto
do Rosário, Virgílio Estólio
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Arez, Ana Paula
Portugal, Lisbon
Instituto de Higiene e Medicina Tropical
Statistics
Citations: 26
Authors: 16
Affiliations: 8
Identifiers
Doi:
10.1371/journal.pone.0047071
e-ISSN:
19326203
Research Areas
Cancer
Genetics And Genomics
Infectious Diseases
Study Design
Cross Sectional Study
Study Locations
Angola
Equatorial Guinea
Guinea
Mozambique
Sao Tome and Principe