{"id":1520,"date":"2020-08-21T04:01:57","date_gmt":"2020-08-21T04:01:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1520"},"modified":"2026-02-23T23:50:00","modified_gmt":"2026-02-23T23:50:00","slug":"frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/21\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\/","title":{"rendered":"Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song)"},"content":{"rendered":"<p>Deafness-Dystonia-Optic Neuronopathy (DDON) syndrome is a rare X-linked inherited disease characterized by progressive deafness, dystonia, ataxia, visual problems, and memory deficit, which is caused by mutations in the gene <em>DDP1\/TIMM8A<\/em>. The encoded protein, Tim8a, is a mitochondrial protein. In the present study, we found a novel mutation in the <em>DDP1<\/em> gene (NM_004085.3, c.82C&gt;T, p.Q28X) and generated a mouse model carrying a similar mutation of Tim 8a, p.I23fs49X. The mutant mice show less weight gain, hearing impairment, and cognitive deficit. Electron microscopic analysis indicates abnormal mitochondrial structure in several brain areas. Further study of the detailed molecular mechanism of the mitochondria dysfunction caused by mutant Tim8a is ongoing. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/19\/jmedgenet-2020-106925\">https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/19\/jmedgenet-2020-106925<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/21\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\/untitled-33\/\" rel=\"attachment wp-att-1521\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1521\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-300x201.jpg\" alt=\"\" width=\"300\" height=\"201\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-300x201.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1024x686.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-768x515.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1536x1029.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-640x429.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled.jpg 1622w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Deafness-Dystonia-Optic Neuronopathy (DDON) syndrome is a rare X-linked inherited disease characterized by progressive deafness, dystonia, ataxia, visual problems, and memory deficit, which is caused by mutations in the gene DDP1\/TIMM8A. The encoded protein, Tim8a, is a mitochondrial protein. In the present study, we found a novel mutation in the DDP1 gene (NM_004085.3, c.82C&gt;T, p.Q28X) and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/21\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\/\">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-1520","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song) - 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\/2020\/08\/21\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Deafness-Dystonia-Optic Neuronopathy (DDON) syndrome is a rare X-linked inherited disease characterized by progressive deafness, dystonia, ataxia, visual problems, and memory deficit, which is caused by mutations in the gene DDP1\/TIMM8A. The encoded protein, Tim8a, is a mitochondrial protein. In the present study, we found a novel mutation in the DDP1 gene (NM_004085.3, c.82C&gt;T, p.Q28X) and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/21\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-21T04:01:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:50:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1622\" \/>\n\t<meta property=\"og:image:height\" content=\"1087\" \/>\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\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song)\",\"datePublished\":\"2020-08-21T04:01:57+00:00\",\"dateModified\":\"2026-02-23T23:50:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/\"},\"wordCount\":155,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Untitled-300x201.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/21\\\/frameshift-mutation-of-timm8a1-gene-in-mouse-leads-to-an-abnormal-mitochondrial-structure-in-the-brain-correlating-with-hearing-and-memory-impairment\\\/\",\"name\":\"Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment (Contributed by Dr. Pingping Song) - 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The encoded protein, Tim8a, is a mitochondrial protein. 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