"From a genetics standpoint, this is a very exciting finding," said Dr. While this finding is new for LBD, TCPN1 is a known risk factor for Alzheimer's disease, which could mean that this structural variant plays a role in the broader dementia population. 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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