Genetics of Amyotrophic Lateral Sclerosis
Introduction
Amyopathic lateral sclerosis (ALS) is an age-related progressive neurodegenerative disorder of both upper motor neurons (UMN) and lower motor neurons (LMN).[1] ALS is also referred to as Motor Neuron Disease (MND) in European countries such as the United Kingdom the disease affects motor neuron functions in the human motor system.[2] ALS gradually degrades neurons that are responsible for controlling voluntary muscle movements. The degenerations cause the links between the brain, spinal and voluntary muscles to degrade leading to the loss of control of motor functions, eventually leading to paralysis. The muscles continue to weaken until fasciculation occurs and eventually atrophy of the voluntary muscles.[3] There is no effective treatment that cures the disease or reverses the progression of the degeneration. Non-invasive ventilation, alongside physical and speech therapy, can prolong the life of patients and improve the quality of life. Most patients die from respiratory failure, within 3 to 5 years after initial symptoms (Figure 1).[3]
There are two types of ALS: sporadic ALS and familial ALS. About 90% to 95% cases of ALS are sporadic, however, the causes of sporadic ALS are still unknown.[3][4] There are no known risk factors associated with sporadic ALS and patients have no family history with the disease. The remaining 5% to 10% of cases are familial.[4] Familial ALS only requires one parent to carry the gene responsible for the disease as the gene is autosomal dominant. Mutations in 25 genes have been associated with the cause of ALS. [5]
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Section 1: Genetics of ALS
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Section 2: Neuroepigenetics of ALS
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Section 3: Gut Microbiome
Conclusion
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References
- ↑ Bryan J. Traynor, M. (2000, August 01). Clinical Features of Amyotrophic Lateral Sclerosis According to the El Escorial and Airlie House Diagnostic Criteria. Retrieved December 08, 2020, from https://jamanetwork.com/journals/jamaneurology/article-abstract/777262
- ↑ Fang, F., Kamel, F., Sandler, D., Sparén, P., & Ye, W. (2008, March 25). Maternal Age, Exposure to Siblings, and Risk of Amyotrophic Lateral Sclerosis. Retrieved December 08, 2020, from https://academic.oup.com/aje/article/167/11/1281/131930
- ↑ 3.0 3.1 3.2 Amyotrophic Lateral Sclerosis (ALS) Fact Sheet. (n.d.). Retrieved December 08, 2020, from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet
- ↑ 4.0 4.1 Chiò A;Traynor BJ;Lombardo F;Fimognari M;Calvo A;Ghiglione P;Mutani R;Restagno G;. (2008). Prevalence of SOD1 mutations in the Italian ALS population. Retrieved December 08, 2020, from https://pubmed.ncbi.nlm.nih.gov/18268245/
- ↑ Hguyen et al. (2018, June 1). ALS Genes in the Genomic Era and their Implications for FTD. Retrieved December 08, 2020, from https://doi.org/10.1016/j.tig.2018.03.001
Edited by Smrami Patel, student of Joan Slonczewski for BIOL 116 Information in Living Systems, 2020, Kenyon College.
