The enzyme superoxide dismutase 1 (SOD1) forms clumps inside the cells of some people with sporadic amyotrophic lateral sclerosis (ALS), making them more vulnerable to DNA damage — which may contribute to the neurodegeneration that marks the disease, an early study suggests. In other patients, SOD1 is transported…
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Superoxide dismutase 1 (SOD1) is an antioxidant enzyme. Mutations in the *SOD1* gene cause toxic protein clumping and mitochondrial dysfunction, contributing to amyotrophic lateral sclerosis (ALS). However, a complete loss of SOD1 function leads to severe motor problems, warning against complete gene silencing.
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Complete Loss of SOD1 Function Leads to Severe Motor Problems, Study Says in Warning to Researchers
Mutations causing a complete loss of function of the SOD1 gene lead to severe motor problems, a case study reports, calling for caution in research into silencing this gene as a potential treatment for people with amyotrophic lateral sclerosis (ALS). The case study, “SOD1 deficiency: a novel syndrome…
A molecule that prevents cell death was able to prevent and reverse clumping of a mutant form of the protein superoxide dismutase 1 (SOD1) — the underlying cause of some familial amyotrophic lateral sclerosis (ALS) cases. …
Mutations in a gene called SOD1 lead to the development of cellular anomalies associated with amyotrophic lateral sclerosis (ALS), according to a new study using animal models of the disease. Such anomalies included deficient regulation of amino acid levels, which are crucial for protein production and cell activity, but could…
Researchers from the University of Milan (UM), Italy, have recently released findings from their scientific literature review, in an effort to uncover the causes of cellular pathologies that are the hallmark of Amyotrophic Lateral Sclerosis (ALS). The findings entitled, “SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis“, published…
Specific patterns of a misfolded protein — superoxide dismutase 1 (SOD1) — are found in the brain and spinal cord of patients with sporadic amyotrophic lateral sclerosis (ALS), according to a new study, supporting research suggesting that misfolded SOD1 plays a role in this ALS subtype. The research, “…
A gene therapy effectively and safely lowered the production of a key amyotrophic lateral sclerosis (ALS) protein called superoxide dismutase 1 (SOD1) in primates, according to a new study. “This level of silencing, coupled with the lack of adverse effects, suggests that this approach to treating ALS should be…
Israeli researchers may have found that a protein related to Alzheimer’s disease can also run amuck in amylotrophic lateral sclerosis (ALS). The report, titled “Mutant SOD1 Increases APP Expression and Phosphorylation in Cellular and Animal Models of ALS” appeared November 24th in PLoS One. In…
A study led by researchers at the National Institute of Neurological Disorders and Stroke (NINDS) recently published in the journal Neuron revealed new insights into why mutations in the SOD1 gene lead to the development of amyotrophic lateral sclerosis (ALS). The study is entitled “…
Mutations in the SOD1 gene, a major copper-binding protein, are a known cause of familial amyotrophic lateral sclerosis (ALS). An extensive review from Keio University in Japan explores the possible role of copper homeostasis in SOD1-linked ALS, as seen in mice studies, and highlights the need for similar studies in people.