Sigal Ben-Zaken1, Beatrice Nefussy2, Yoav Meckel3, Alon Eliakim4,5, Dan Nemet4,5, Marc Gotkine6, Dana Lorber7, Aviva Zeev3, Vivian E Drory2,5. 1. The Academic College at Wingate, Wingate Institute, Netanya, Israel. sigalbz@wincol.ac.il. 2. Neuromuscular Diseases Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel. 3. The Academic College at Wingate, Wingate Institute, Netanya, Israel. 4. Pediatric Department, Meir Medical Center, Kfar-Saba, Israel. 5. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 6. Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 7. Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Abstract
OBJECTIVE: The aim of the present study was to determine the prevalence of the ACSL A/G single nucleotide polymorphism among athletes and patients with amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disorder of motor neurons that leads to paralysis and death usually within 3-5 years from onset. Previous epidemiological studies reported a higher risk of ALS among soccer players. The ACSL (long-chain-fatty-acid-CoA ligase 1) gene codes the long-chain fatty-acid-coenzyme A ligase family that plays a key role in lipid biosynthesis and fatty acid oxidation. The ACSL A/G polymorphism is associated with endurance trainability. METHODS: One hundred and seventy-eight ALS patients, 172 athletes (60 soccer players, 112 middle- and long-distance runners), and 111 nonathletic controls participated in the study. Genomic DNA was extracted from blood or buccal cells according to the salting-out procedure. Genotypes were determined using the TaqMan allelic discrimination assay. RESULTS: The prevalence of the ACSL AA genotype was significantly higher among soccer players (35.0%) and ALS patients (39.3%) compared to runners (16.1%) and controls (18.0%). However, ALS GG carriers had a higher mortality rate. CONCLUSION: We postulate that soccer players and ALS patients carry a common genetic predisposition that is related to impaired fatty acid utilization. Moreover, while the A allele might be associated with a genetic predisposition toward ALS, especially among soccer players, the G allele might be associated with disease severity. Further research is needed in order to explore the role of the ACSL rs6552828 polymorphism in ALS.
OBJECTIVE: The aim of the present study was to determine the prevalence of the ACSL A/G single nucleotide polymorphism among athletes and patients with amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disorder of motor neurons that leads to paralysis and death usually within 3-5 years from onset. Previous epidemiological studies reported a higher risk of ALS among soccer players. The ACSL (long-chain-fatty-acid-CoA ligase 1) gene codes the long-chain fatty-acid-coenzyme A ligase family that plays a key role in lipid biosynthesis and fatty acid oxidation. The ACSL A/G polymorphism is associated with endurance trainability. METHODS: One hundred and seventy-eight ALS patients, 172 athletes (60 soccer players, 112 middle- and long-distance runners), and 111 nonathletic controls participated in the study. Genomic DNA was extracted from blood or buccal cells according to the salting-out procedure. Genotypes were determined using the TaqMan allelic discrimination assay. RESULTS: The prevalence of the ACSL AA genotype was significantly higher among soccer players (35.0%) and ALS patients (39.3%) compared to runners (16.1%) and controls (18.0%). However, ALS GG carriers had a higher mortality rate. CONCLUSION: We postulate that soccer players and ALS patients carry a common genetic predisposition that is related to impaired fatty acid utilization. Moreover, while the A allele might be associated with a genetic predisposition toward ALS, especially among soccer players, the G allele might be associated with disease severity. Further research is needed in order to explore the role of the ACSL rs6552828 polymorphism in ALS.
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