Effect of Mutations in SOD1 and C9orf72 Genes on Autophagy in Lymphomonocytes in Myotrophic Lateral Sclerosis

Kochergin, I A; Shpilyukova, Yu. A.; Lysogorskaia, E. V.; Abramycheva, N.Y.; Zakharova, M. N.; Иллариошкин, С.Н.

doi:10.1007/s10517-019-04595-w

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…Because the mutations are dispersed throughout the SOD1 structure, the exact molecular mechanism leading to ALS pathology has not been determined (12). The clinical manifestations of patients can differ according to the mutation site.…”

Section: Discussionmentioning

confidence: 99%

Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report

Cui¹,

Gao²,

YuanHua³

et al. 2021

Ann Palliat Med

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The disease progresses rapidly and clinically is considered to be progressive degeneration of the upper and lower motor neurons. According to the diagnostic criteria of Neurology branch of Chinese Medical Association, the signs of upper and lower motor neuron damage in three areas (including brainstem, brachial plexus, trunk and lumbosacral muscles) are positive for ALS, and the signs of upper and lower

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Section: Discussionmentioning

confidence: 99%

Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report

Cui¹,

Gao²,

YuanHua³

et al. 2021

Ann Palliat Med

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show abstract

“…Mutations such as the Cu/Zn-dependent superoxide dismutase 1 (SOD1) gene caused loss of dynein function, leading to the accumulation of pathological protein aggregates in ALS [ 174 , 175 , 176 , 177 ]. Studies have shown that genetic mutations enhanced the binding of autophagy matrix to autophagosomes through interaction with LC3 [ 178 , 179 , 180 ]. Pathogenic mutations in ubiquitinated autophagy receptor protein optineurin (OPTN) reduced autophagy with less protein clearance and inhibited the OPTN’s ability to remove damaged mitochondria [ 181 , 182 ].…”

Section: Autophagy and Nddsmentioning

confidence: 99%

Melatonin and Autophagy in Aging-Related Neurodegenerative Diseases

Luo

Sandhu

Rungratanawanich

et al. 2020

IJMS

104

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With aging, the nervous system gradually undergoes degeneration. Increased oxidative stress, endoplasmic reticulum stress, mitochondrial dysfunction, and cell death are considered to be common pathophysiological mechanisms of various neurodegenerative diseases (NDDs) such as Alzheimer’s disease (AD), Parkinson’s disease (PD), Huntington’s disease (HD), organophosphate-induced delayed neuropathy (OPIDN), and amyotrophic lateral sclerosis (ALS). Autophagy is a cellular basic metabolic process that degrades the aggregated or misfolded proteins and abnormal organelles in cells. The abnormal regulation of neuronal autophagy is accompanied by the accumulation and deposition of irregular proteins, leading to changes in neuron homeostasis and neurodegeneration. Autophagy exhibits both a protective mechanism and a damage pathway related to programmed cell death. Because of its “double-edged sword”, autophagy plays an important role in neurological damage and NDDs including AD, PD, HD, OPIDN, and ALS. Melatonin is a neuroendocrine hormone mainly synthesized in the pineal gland and exhibits a wide range of biological functions, such as sleep control, regulating circadian rhythm, immune enhancement, metabolism regulation, antioxidant, anti-aging, and anti-tumor effects. It can prevent cell death, reduce inflammation, block calcium channels, etc. In this review, we briefly discuss the neuroprotective role of melatonin against various NDDs via regulating autophagy, which could be a new field for future translational research and clinical studies to discover preventive or therapeutic agents for many NDDs.

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Antioxidant Defense System: Regulation of Metabolic Processes, Genetic Determinants, and Methods of Determination

Nikitina

Darenskaya²,

Semenova³

et al. 2023

Cell Tiss. Biol.

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Effect of Mutations in SOD1 and C9orf72 Genes on Autophagy in Lymphomonocytes in Myotrophic Lateral Sclerosis

Cited by 4 publications

References 11 publications

Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report

Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report

Melatonin and Autophagy in Aging-Related Neurodegenerative Diseases

Antioxidant Defense System: Regulation of Metabolic Processes, Genetic Determinants, and Methods of Determination

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