![]() This variant, in which more than 300 nucleotides are deleted from the gene, is associated with a higher risk for developing LBD. ![]() ![]() Scholz, M.D., Ph.D., investigator in the neurogenetics branch of NINDS and senior author of this study.īy combining cutting-edge computer algorithms capable of mapping structural variations across the whole genome with machine learning, the research team analyzed whole-genome data from thousands of patient samples and several thousand unaffected controls.Ī previously unknown variant in the gene TCPN1 was found in samples from patients with LBD, a disease, that like Parkinson's disease, is associated with abnormal deposits of the protein alpha-synuclein in the brain. "If you imagine that our entire genetic code is a book, a structural variant would be a paragraph, page, or even an entire chapter that has been removed, duplicated, or inserted in the wrong place," said Sonja W. Unlike more commonly studied mutations, which often affect one or a few DNA building blocks called nucleotides, structural variants represent at least 50 but often hundreds, or even thousands, of nucleotides at once, making them more challenging to study. ![]() Structural variants have been implicated in a variety of neurological disorders. ![]()
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