{"id":1730,"date":"2022-05-14T14:26:34","date_gmt":"2022-05-14T14:26:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1730"},"modified":"2026-02-23T00:52:07","modified_gmt":"2026-02-23T00:52:07","slug":"armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/","title":{"rendered":"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang)"},"content":{"rendered":"<p>Asthenozoospermia is a common pathogenesis of male infertility. The motility of spermatozoa is based on the presence of an intact flagellum and an adequate energy supply. The midpiece of the human spermatozoa consists of the axoneme and the outer wrapped mitochondrial sheath, which is essential for sperm motility. Here, we identified bi-allelic <em>ARMC12<\/em> mutations from three infertile patients with multiple flagella defects in the midpiece, including absent MS and central pair, scattered or forked axoneme, and incomplete plasma membrane. Spermatozoa from <em>Armc12<sup>-\/-<\/sup><\/em> mice showed parallel defects in the midpiece. Our findings prove for the first time that defects in<em> ARMC12<\/em> cause asthenozoospermia and multiple midpiece defects in humans and mice. Moreover, intracytoplasmic sperm injection could achieve good outcomes. This study indicated that we need to pay more attention to the morphological defects in the midpiece of the sperm flagella in patients with asthenozoospermia.<\/p>\n<p>These results may further facilitate genetic counselling, pregnancy expectancy and offspring health risk assessment for clinicians and patients with asthenozoospermia due to multiple midpiece-specific defects. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/05\/08\/jmedgenet-2021-108137\">https:\/\/jmg.bmj.com\/content\/early\/2022\/05\/08\/jmedgenet-2021-108137<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/blog-armc12\/\" rel=\"attachment wp-att-1731\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1731\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-300x232.jpg\" alt=\"\" width=\"300\" height=\"232\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-300x232.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-1024x791.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-768x593.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-1536x1187.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-2048x1582.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-640x494.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Asthenozoospermia is a common pathogenesis of male infertility. The motility of spermatozoa is based on the presence of an intact flagellum and an adequate energy supply. The midpiece of the human spermatozoa consists of the axoneme and the outer wrapped mitochondrial sheath, which is essential for sperm motility. Here, we identified bi-allelic ARMC12 mutations from [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1730","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Asthenozoospermia is a common pathogenesis of male infertility. The motility of spermatozoa is based on the presence of an intact flagellum and an adequate energy supply. The midpiece of the human spermatozoa consists of the axoneme and the outer wrapped mitochondrial sheath, which is essential for sperm motility. Here, we identified bi-allelic ARMC12 mutations from [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-05-14T14:26:34+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:52:07+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2079\" \/>\n\t<meta property=\"og:image:height\" content=\"1606\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang)\",\"datePublished\":\"2022-05-14T14:26:34+00:00\",\"dateModified\":\"2026-02-23T00:52:07+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/\"},\"wordCount\":194,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/05\\\/Blog-ARMC12-300x232.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/05\\\/14\\\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\\\/\",\"name\":\"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang) - 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Here, we identified bi-allelic ARMC12 mutations from [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/","og_site_name":"JMG Contact blog","article_published_time":"2022-05-14T14:26:34+00:00","article_modified_time":"2026-02-23T00:52:07+00:00","og_image":[{"width":2079,"height":1606,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang)","datePublished":"2022-05-14T14:26:34+00:00","dateModified":"2026-02-23T00:52:07+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/"},"wordCount":194,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/05\/Blog-ARMC12-300x232.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/","url":"https:\/\/blogs.bmj.com\/jmg\/2022\/05\/14\/armc12-mutations-a-novel-mechanism-for-human-multiple-midpiece-specific-defects-and-asthenozoospermia\/","name":"ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia (Contributed by Professor Yifeng Wang) - 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