Dataset Information

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

ABSTRACT: Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of European and Asian descent. SMN copy numbers and SMA carrier frequencies have not been reliably estimated in Malians and other sub-Saharan Africans.We used a quantitative polymerase chain reaction assay to determine SMN1 and SMN2 copy numbers in 628 Malians, 120 Nigerians, and 120 Kenyans. We also explored possible mechanisms for SMN1 and SMN2 copy number differences in Malians, and investigated their effects on SMN mRNA and protein levels.The SMA carrier frequency in Malians is 1 in 209, lower than in Eurasians. Malians and other sub-Saharan Africans are more likely to have ?3 copies of SMN1 than Eurasians, and more likely to lack SMN2 than Europeans. There was no evidence of gene conversion, gene locus duplication, or natural selection from malaria resistance to account for the higher SMN1 copy numbers in Malians. High SMN1 copy numbers were not associated with increased SMN mRNA or protein levels in human cell lines.SMA carrier frequencies are much lower in sub-Saharan Africans than in Eurasians. This finding is important to consider in SMA genetic counseling in individuals with black African ancestry.

SUBMITTER: Sangare M

PROVIDER: S-EPMC4112719 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Sangaré Modibo M Hendrickson Brant B Sango Hammadoun Ali HA Chen Kelian K Nofziger Jonathan J Amara Abdelbasset A Dutra Amalia A Schindler Alice B AB Guindo Aldiouma A Traoré Mahamadou M Harmison George G Pak Evgenia E Yaro Fatoumata N'Go FN Bricceno Katherine K Grunseich Christopher C Chen Guibin G Boehm Manfred M Zukosky Kristen K Bocoum Nouhoum N Meilleur Katherine G KG Daou Fatoumata F Bagayogo Koumba K Coulibaly Yaya Ibrahim YI Diakité Mahamadou M Fay Michael P MP Lee Hee-Suk HS Saad Ali A Gribaa Moez M Singleton Andrew B AB Maiga Youssoufa Y Auh Sungyoung S Landouré Guida G Fairhurst Rick M RM Burnett Barrington G BG Scholl Thomas T Fischbeck Kenneth H KH

Annals of neurology 20140402 4

<h4>Objective</h4>Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of European and Asian descent. SMN copy numbers and SMA carrier frequencies have not been reliably e ...[more]

PMID: 24515897

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Project description:Sub-Saharan Africa represents 69% of the total number of individuals living with HIV infection worldwide and 72% of AIDS deaths globally. Pulmonary infection is a common and frequently fatal complication, though little is known regarding the lower airway microbiome composition of this population. Our objectives were to characterize the lower airway microbiome of Ugandan HIV-infected patients with pneumonia, to determine relationships with demographic, clinical, immunological, and microbiological variables and to compare the composition and predicted metagenome of these communities to a comparable cohort of patients in the US (San Francisco). Bronchoalveolar lavage samples from a cohort of 60 Ugandan HIV-infected patients with acute pneumonia were collected. Amplified 16S ribosomal RNA was profiled and aforementioned relationships examined. Ugandan airway microbiome composition and predicted metagenomic function were compared to US HIV-infected pneumonia patients. Among the most common bacterial pulmonary pathogens, Pseudomonas aeruginosa was most prevalent in the Ugandan cohort. Patients with a richer and more diverse airway microbiome exhibited lower bacterial burden, enrichment of members of the Lachnospiraceae and sulfur-reducing bacteria and reduced expression of TNF-alpha and matrix metalloproteinase-9. Compared to San Franciscan patients, Ugandan airway microbiome were significantly richer, and compositionally distinct with predicted metagenomes that encoded a multitude of distinct pathogenic pathways e.g secretion systems. Ugandan pneumonia-associated airway microbiome is compositionally and functionally distinct from those detected in comparable patients in developed countries, a feature which may contribute to adverse outcomes in this population. Please note that the data from the comparable cohort of patients in the USUS data was published as supplemental material of PMID: 22760045 but not submitted to GEO The 'patient_info.txt' contains 12 clinical, 7 immunological and 3 microbiological variables for each patient.

Dataset Information

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Publications

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

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