{"id":227902,"date":"2025-12-27T01:07:36","date_gmt":"2025-12-27T07:07:36","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/12\/novel-atxn10-repeat-motif-patterns-in-peruvian-families-modify-disease-onset"},"modified":"2025-12-27T01:07:36","modified_gmt":"2025-12-27T07:07:36","slug":"novel-atxn10-repeat-motif-patterns-in-peruvian-families-modify-disease-onset","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/12\/novel-atxn10-repeat-motif-patterns-in-peruvian-families-modify-disease-onset","title":{"rendered":"Novel ATXN10 Repeat Motif Patterns in Peruvian Families Modify Disease Onset"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/novel-atxn10-repeat-motif-patterns-in-peruvian-families-modify-disease-onset2.jpg\"><\/a><\/p>\n<p>This study used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate <i>ATXN10<\/i> repeat motif patterns and investigated genotype-phenotype correlations in index cases of 6 multigenerational spinocerebellar ataxia type 10 kindreds from Peru.<\/p>\n<hr>\n<p>Spinocerebellar ataxia type 10 (SCA10, Online Mendelian Inheritance in Man (OMIM)# 603516) is a rare autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the <i>ATXN10<\/i> gene on chromosome 22q13.3.<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R1\" id=\"core-R1-1\">1<\/a><\/sup> Although rare globally, SCA10 accounts for 45% of spinocerebellar ataxia cases in Peru, where the population is approximately 70% Amerindian.<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R2\" id=\"core-R2-1\">2,3<\/a><\/sup><\/p>\n<p>A typical <i>ATXN10<\/i> allele has 10\u201332 ATTCT repeats. Intermediate alleles from 280 to 850 repeats may have reduced penetrance<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R4\" id=\"core-R4-1\">4<\/a><\/sup> while alleles over 850 repeats result in full disease penetrance.<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R5\" id=\"core-R5-1\">5<\/a><\/sup> In our recent study on <i>ATXN10<\/i> expansions in healthy Peruvians, we found expanded alleles in 3.7% of Mestizos and 9.9% of Indigenous American nonataxic individuals.<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R6\" id=\"core-R6-1\">6<\/a><\/sup><\/p>\n<p>Conventional methods fail to accurately determine <i>ATXN10<\/i> repeat size and structure: Southern blot often overestimates repeats while repeat-primed PCR cannot measure repeats over 1,250 bp or detect alternate repeats without specific repeat primers.<sup><a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200316#core-collateral-R7\" id=\"core-R7-1\">7<\/a><\/sup><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This study used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigated genotype-phenotype correlations in index cases of 6 multigenerational spinocerebellar ataxia type 10 kindreds from Peru. Spinocerebellar ataxia type 10 (SCA10, Online Mendelian Inheritance in Man (OMIM)# 603516) is a rare [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-227902","post","type-post","status-publish","format-standard","hentry","category-biotech-medical"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/227902","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=227902"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/227902\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=227902"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=227902"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=227902"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}