Using sequencing techniques, researchers associated 51 mutations in mitochondrial DNA with amyotrophic lateral sclerosis (ALS), an incurable degenerative neurological disorder that leads to muscle atrophy and paralysis.
São Paulo Research FoundationOct 31 2024 Using sequencing techniques, researchers associated 51 mutations in mitochondrial DNA with amyotrophic lateral sclerosis , an incurable degenerative neurological disorder that leads to muscle atrophy and paralysis. Thirteen of the mutations increased the risk of ALS, while 38 were protective. The study suggests these mutations may be important for future tests and research on ALS.
Briones, who is co-corresponding author alongside James Broach, a researcher at Penn State College of Medicine in the U.S., stressed the importance of their findings. Related StoriesThe researchers used an approach known as genome-wide association study to identify small genetic variations called single nucleotide variants . They compared SNV frequency and concluded that a specific SNV could be associated with ALS if it was significantly more common in patients than controls.
P-value is the probability of obtaining the sampling results due to chance. The smaller the p-value, the stronger the evidence that the results are significant and not due to chance. In biology, a p-value of less than 0.05 is considered significant.
Sclerosis DNA Education Genes Genetic Genome Genomics Mitochondria Muscle Muscle Atrophy Nerve Paralysis Research Whole Genome Sequencing
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