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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa
Annals of Neurology, Volume 75, No. 4, Year 2014
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Description
Objective 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. Methods 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. Results 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. Interpretation 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. Ann Neurol 2014;75:525-532 © 2014 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.
Authors & Co-Authors
Sangaré, Modibo
United States, Bethesda
National Institute of Neurological Disorders and Stroke
United States, Washington, D.c.
The George Washington University School of Medicine and Health Sciences
Hendrickson, Brant
United States, Burlington
Laboratory Corporation of America Holdings
Sango, Hammadoun Ali
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Chen, Kelian
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Nofziger, Jonathan
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Amara, Abdelbasset
Tunisia, Sousse
Hopital Farhat Hached Sousse
Dutra, Amalia
United States, Bethesda
National Human Genome Research Institute Nhgri
Schindler, Alice B.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Guindo, Aldiouma
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Traoré, Mahamadou Namory
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Harmison, George
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Pak, Evgenia
United States, Bethesda
National Human Genome Research Institute Nhgri
Yaro, Fatoumata N.Go
Mali, Bamako
Point g Hospital
Bricceno, Katherine
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Grunseich, Christopher
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Chen, Guibin
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Boehm, Manfred
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Zukosky, Kristen
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Bocoum, Nouhoum
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Meilleur, Katherine Gloria
United States, Bethesda
National Institute of Neurological Disorders and Stroke
United States, Bethesda
National Institute of Nursing Research Ninr
Daou, Fatoumata
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Bagayogo, Koumba
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Coulibaly, Youssouf
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Diakité, Mahamadou L.
Mali, Bamako
University of Bamako
Fay, Michael P.
United States, Bethesda
National Institute of Allergy and Infectious Diseases Niaid
Lee, Hee Suk
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Gribaa, Moez
Tunisia, Sousse
Hopital Farhat Hached Sousse
Singleton, Andrew B.
United States, Bethesda
National Institute on Aging Nia
Maïga, Youssoufa M.
Mali, Bamako
Gabriel Toure Hospital
Auh, Sungyoung
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Landouré, Guida
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Mali, Bamako
Point g Hospital
Fairhurst, Rick M.
United States, Bethesda
National Institute of Allergy and Infectious Diseases Niaid
Burnett, Barrington G.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Scholl, Thomas
United States, Burlington
Laboratory Corporation of America Holdings
Fischbeck, Kenneth H.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Statistics
Citations: 36
Authors: 36
Affiliations: 13
Identifiers
Doi:
10.1002/ana.24114
ISSN:
03645134
e-ISSN:
15318249
Research Areas
Genetics And Genomics
Infectious Diseases
Maternal And Child Health
Study Approach
Quantitative