Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?
| Autor: | Abdallah A. Diallo, K. Dembele, Guida Landouré, Ilo Dicko, Moussa Traoré, Arouna Togora, Souleymane Coulibaly, Mariam Sylla, Seydou Doumbia, K Traoré, Alice B. Schindler, Barrington G. Burnett, Mamadou Dolo, Mamadou karembe, Amadou Toure, Brant C. Hendrickson, B Maiga, Modibo Sangare, Kenneth H. Fischbeck, Sekou F. Traore, C.O. Guinto, Youlouza Coulibaly, Katherine V. Bricceno, Katherine G. Meilleur, Angela Kokkinis, Housseini Dolo, Adama Sissoko, Siaka Y. Coulibaly, Yaya Ibrahim Coulibaly, Youssoufa Maiga, Brehima Diakite, Yaya Kassogue, Hammadoun Ali Sangho |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
SMN1 030105 genetics & heredity lcsh:RC346-429 03 medical and health sciences Veldink formula 0302 clinical medicine parasitic diseases Medicine Copy-number variation SMA Amyotrophic lateral sclerosis lcsh:Neurology. Diseases of the nervous system business.industry SALS Spinal muscular atrophy Motor neuron medicine.disease nervous system diseases medicine.anatomical_structure nervous system Neurology Original Article business Neuroscience 030217 neurology & neurosurgery SMN2 |
| Zdroj: | eNeurologicalSci eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016) |
| ISSN: | 2405-6502 |
| Popis: | Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SMN2 have been reported as risk factors for the development or severity of SALS. Objective: To investigate the role of SMN gene copy number in the onset and severity of SALS in Malians. Material and Methods: We determined the SMN1 and SMN2 copy number in genomic DNA samples from 391 Malian adult volunteers, 120 Yoruba from Nigeria, 120 Luyha from Kenya and 74 U.S. Caucasians using a Taqman quantitative PCR assay. We evaluated the SALS risk based on the estimated SMA protein level using the Veldink formula (SMN1 copy number + 0.2∗SMN2 copy number). We also characterized the disease natural history in 15 ALS patients at the teaching hospital of Point G, Bamako, Mali. Results: We found that 131 of 391 (33.5%) had an estimated SMN protein expression of ≤2.2; 60 out of 391 (15.3%) had an estimated SMN protein expression |
| Databáze: | OpenAIRE |
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