{"id":1478,"date":"2020-08-07T00:54:07","date_gmt":"2020-08-07T00:54:07","guid":{"rendered":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-dominant-diseases\/"},"modified":"2021-02-04T11:32:23","modified_gmt":"2021-02-04T10:32:23","slug":"genetic-diseases-autosomal-dominant-diseases","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-dominant-diseases\/","title":{"rendered":"Genetic Diseases: Autosomal Dominant Diseases"},"content":{"rendered":"<span class=\"block-heading\" id=\"header_1\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Alzheimer&#8217;s Disease<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<p class=\"wp-block-paragraph\">Alzheimer&#8217;s disease is a <strong>multifactorial<\/strong> neurodegenerative disorder that is characterized by memory loss accompanied by confusion and difficulty in completing basic tasks.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>It has some forms that are early onset. They are <strong>monogenic<\/strong> and are inherited in an autosomal dominant pattern.<\/li><li>It also has some <strong>sporadic<\/strong> forms that do not run in the family and arise as de novo mutations.<\/li><li>It is caused by the deposition of <strong>amyloid<\/strong> proteins in the brain (amyloids are insoluble, fibrillary, misfolded proteins that are formed usually as a result of incomplete degradation or overproduction of a certain substance).<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Huntington&#8217;s Disease (HD)<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<p class=\"wp-block-paragraph\">Huntington&#8217;s disease is a neurodegenerative disorder that is characterized by movement problems. One well-known variant of the disease is known as Huntington&#8217;s chorea, in which there are excessive, dance-like movements.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>It is caused by a<strong> triplet expansion<\/strong> of the CAG repeat excessively repeated (10-26 in healthy individuals, &gt;36 in HD)<\/li><li>Triplet expansions are also known as <strong>dynamic mutations&nbsp;<\/strong>caused by&nbsp;slipped mispairing mutations during DNA replication<\/li><li>&nbsp;The number of repeats increases with every generation. This means that the age of onset will be earlier in each new generation. This phenomenon is known as <strong>anticipation<\/strong>.<\/li><li>Anticipation is also observed in Fragile X syndrome; another triplet expansion.<\/li><li>Children diagnosed with Huntington&#8217;s usually do not live to adulthood.<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/05\/cag_repeats.png\" target=\"_blank\" title=\"Genetic Diseases: Autosomal Dominant Diseases\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/05\/cag_repeats-600x366.png\" alt=\"\" class=\"wp-image-29621\"\/><\/a><figcaption><strong>Graphic showing the excessive repetitions of the cytosine-adenine-guanine (CAG) nucleotide sequence in a gene from a Huntington&#8217;s disease patient (bottom) compared to a gene from a person without the neurodegenerative disorder (top).<\/strong><\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Familial Hypercholesterolemia (FH)<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<ul class=\"wp-block-list\"><li>Familial Hypercholesterolemia is characterized by an increase in the level of cholesterol in the blood <em>(hyper-too much, emia-blood)<\/em>.<\/li><li>The excess cholesterol will be deposited around the body, mainly in the arteries leading to <strong>atheromas<\/strong> and <strong>atherosclerosis<\/strong><\/li><li>It has both monogenic and polygenic forms that are aggravated by diet and smoking.<\/li><li>After digestion, the lipids and cholesterol are transported in <strong>low-density lipoproteins (LDLs)<\/strong> from the liver to the body tissues through the blood. When the LDL gets to the cells(in the tissues), it binds to the LDL receptor of the cell and this allows the cell to take it up by receptor-mediated endocytosis.<\/li><li>In familial hypercholesterolemia, the LDL receptor is mutant. This means that the LDL&#8217;s cannot be taken into the cells so they remain in the blood. This leads to an increase in blood cholesterol levels.<\/li><li>Heterozygous individuals have a lower blood cholesterol level than homozygous dominant individuals but still higher than normal.<\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Itrafig2.jpg\" target=\"_blank\" title=\"Genetic Diseases: Autosomal Dominant Diseases\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Itrafig2-600x449.jpg\" alt=\"\" class=\"wp-image-27522\"\/><\/a><figcaption><strong>Steps of receptor-mediated endocytosis. Mutation in any of the molecules involved such as the adaptor protein will also result in Familial Hypercholesterolemia<\/strong>(Credit: Grant, B. D., and Sato, M, CC BY 2.5)<\/figcaption><\/figure><\/div>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Alzheimer&#8217;s Disease<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Huntington&#8217;s Disease (HD)<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Familial Hypercholesterolemia (FH)<\/h4><\/div>","protected":false},"excerpt":{"rendered":"<p>Alzheimer&#8217;s Disease Alzheimer&#8217;s disease is a multifactorial neurodegenerative disorder that is characterized by memory loss accompanied by confusion and difficulty in completing basic tasks. It has some forms that are early onset. They are monogenic and are inherited in an autosomal dominant pattern. It also has some sporadic forms that do not run in the [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1450,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1478","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic Diseases: Autosomal Dominant Diseases &#8211; Meddists<\/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:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-dominant-diseases\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/genetic-diseases-autosomal-dominant-diseases\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/genetic-diseases-autosomal-dominant-diseases\\\/\",\"name\":\"Genetic Diseases: Autosomal Dominant Diseases &#8211; 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