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05.03.2022 | Original Article

Common genetic basis of ALS patients and soccer players may contribute to disease risk

verfasst von: Sigal Ben-Zaken, Beatrice Nefussy, Yoav Meckel, Alon Eliakim, Dan Nemet, Marc Gotkine, Dana Lorber, Aviva Zeev, Vivian E. Drory

Erschienen in: Neurological Sciences | Ausgabe 7/2022

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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.

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Titel: Common genetic basis of ALS patients and soccer players may contribute to disease risk
verfasst von: Sigal Ben-Zaken
Beatrice Nefussy
Yoav Meckel
Alon Eliakim
Dan Nemet
Marc Gotkine
Dana Lorber
Aviva Zeev
Vivian E. Drory
Publikationsdatum: 05.03.2022
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 7/2022
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-05990-4

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Abstract

Objective

Methods

Results

Conclusion

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