A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis
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A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis E. Srinivasan 1 & R. Rajasekaran 1 Received: 27 February 2020 / Accepted: 22 April 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and is characterized by degeneration and axon loss from the upper motor neuron, that descends from the lower motor neuron in the brain. Over the period, assorted outcomes from medical findings, molecular pathogenesis, and structural and biophysical studies have abetted in providing thoughtful insights underlying the importance of disease-causing genes in ALS. Consequently, numerous mechanisms were proposed for the pathogenesis of ALS, considering protein mutations, aggregation, and misfolding. Besides, the answers to the majority of ALS cases that happen to be sporadic still remain obscure. The application in discovering susceptibility factors in ALS contemplating the genetic factors is to be further dissevered in the future years with innovation in research studies. Hence, this review targets in revisiting the breakthroughs on the disease-causing genes related with ALS. Keywords ALS . SOD1 . Misfolding . Mutations and protein aggregation
Introduction Amyotrophic lateral sclerosis was the first described progressive motor neuron disease by the French neurobiologist and clinician Jean-Martin Charcot over 135 years ago. Notably, the premature degeneration and death of upper and lower motor neuron cells provoking to fatal paralysis is its clinical significance. The disease was named from Charcot’s observation in the spinal cord of distinctive myelin pallor, which signifies the degeneration and axon loss from the upper motor neuron, that descends from the lower motor neuron in the brain. It was first being called as Charcot’s sclerosis that is now familiarly called as Lou Gehrig’s disease in the USA. This disease affects the people in the age group between 45 and 60 with a duration of disease from 1 to 5 years (Boillée et al. 2006). The pathophysiology of the disease is not well understood till date, and treatment for this fatal neurodegenerative disease still remains obscure. Moreover, the natural history of the disease varies from every patient, which provides distinct uncertainty (Foerster et al. 2013). An average of more than 5600 people
* R. Rajasekaran [email protected] 1
Bioinformatics Lab, Department of Biotechnology, School of Bio Sciences and Technology, Vellore Institute of Technology (deemed to be university), Vellore, Tamil Nadu 632014, India
were diagnosed with ALS every year. In the USA, as many as 30,000 people are affected by ALS. Two people die in every 100,000 people annually (http://www.alsa.org). ALS is widely spread all over the world in which it is stated that only 10% of the ALS is familial in nature (Schymick et al. 2007). ALS is considered as a heterogeneous disorder with high phenotypic variability. ALS results in a progressive weakness and atrophy of volunta
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