UMMS scientists have found that age-related DNA damage is associated with repeated expansions in ALS-plustek

UMMS scientists found that age related DNA damage and ALS and FTD in repeated expansion – Sohu health translation of Cao Wendong Medical College of University of Massachusetts (UMMS) study found that age related DNA damage caused by oxidative stress is carrying the C9ORF72 gene six nucleotide repeat expansion of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) a a key factor to promote the breakdown of motor neurons in patients. Repeated expansion of C9ORF72 gene is the most common genetic cause of these two diseases. The research by Dr Fen-Biao Gao led the details published in the "Journal" neurons (Neuron), the study identified a mitochondrial dysfunction through damage DNA molecular pathway, scientists hope to be able to target in the treatment of these diseases. "Understanding how these mutations damage oriented motor neurons for the new development of treatments is important in neurology Professor Dr. Gao said," "the mutation carrying will produce abnormal proteins, they interfere with mitochondrial function in neurons and increased oxidative stress. Finding ways to potentially reduce oxidative stress or enhance mitochondrial function in motor neurons may help patients with these diseases." ALS is a progressive neurodegenerative disease that affects motor neurons in the central nervous system. 40% of the genetic forms of ALS cases and of the sporadic ALS cases attributable to the C9ORF72 gene in. With the death of motor neurons, the brain’s ability to send signals to the muscles of the body is destroyed. This will lead to patients not voluntary activities, paralysis and eventually died due to respiratory failure. Similarly, FTD is the second most common form of early-onset dementia, second only to Alzheimer’s disease. FTD was originally known as pick’s disease (Pick sdisease), is caused by neuronal loss in the frontal or temporal lobes. Researchers have made progress in identifying mutations that cause mutations in ALS and FTD, but little is known about how these changes affect neurons and cause toxicity. Patients with C9ORF72 mutations in the gene in the presence of abnormal long GGGGCC repeat expansion. According to Gao and colleagues, this expansion produces several unexpected proteins, called the two peptide repeat (DPR) protein. These proteins are not normally found in healthy people, and in fact are toxic to motor neurons. They also found that these DPR proteins interact physiologically with more than 200 proteins, many of which are RNA binding proteins, such as mitochondrial ribosomal proteins. DPR proteins interfere with the normal function of mitochondria, which are responsible for generating most of the energy supply of cells. This interference may lead to increased oxidative stress, resulting in DNA damage. Gao’s team suggests that reducing oxidative stress can reduce DNA damage. "Because of the use of induced pluripotent stem cells derived from ALS patients in this study to show that C9ORF72 toxicity can be suppressed in culture, the potential of this experimental system for screening相关的主题文章:

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