Mitochondrial DNA (mtDNA) translocation into the nuclear genome, also known as Nuclear Mitochondrial DNA insertions (NUMT), is an extremely rare genetic event that may disrupt a protein-coding gene and cause disease. How exactly NUMTs occur is poorly understood. It is suggested that key mechanisms involve a combination of abnormal mitochondria degradation and non-homologous end-joining DNA repair at nuclear double-strand breaks.<\/p>\n\n\n\n
NUMTs have been implicated in human biology and pathology, including aging, cancer, and Mendelian disease. Up to date, only a handful of disease-causing NUMTs have been described. However, recent studies show that NUMTs variation is continuously misreported as mitochondrial mutations in patients.<\/p>\n\n\n\n
Here we present a rare case of spermatogenic failure in which a NUMT disrupts KLHL10<\/em> through insertion into exon 3 of the gene. Autosomal dominant pathogenic variants in the gene have been reported to cause oligozoospermia.<\/p>\n","protected":false},"excerpt":{"rendered":" Mitochondrial DNA (mtDNA) translocation into the nuclear genome, also known as Nuclear Mitochondrial DNA insertions (NUMT), is an extremely rare genetic event that may disrupt a protein-coding gene and cause disease. How exactly NUMTs occur is poorly understood. It is suggested that key mechanisms involve a combination of abnormal mitochondria degradation and non-homologous end-joining DNA […]<\/p>\n","protected":false},"author":2,"featured_media":14796,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[82],"tags":[],"class_list":["post-14843","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"acf":[],"yoast_head":"\n