{"id":9016,"date":"2024-11-11T19:51:07","date_gmt":"2024-11-11T17:51:07","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9016"},"modified":"2026-04-30T08:25:52","modified_gmt":"2026-04-30T05:25:52","slug":"genetic-mutations-like-small-changes-form-large-consequences","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/genetic-mutations-like-small-changes-form-large-consequences\/","title":{"rendered":"Genetic mutations: how small changes shape big consequences"},"content":{"rendered":"<h2 class=\"\" data-start=\"69\" data-end=\"126\"><strong data-start=\"72\" data-end=\"126\">Context: why mutations are increasingly being talked about<\/strong><\/h2>\n<p class=\"\" data-start=\"128\" data-end=\"435\">In the 21st century, genetics has ceased to be just a field of academic research. <a href=\"https:\/\/medilab.km.ua\/en\/genetic-testing-possibilities-types-and-characteristics-of-implementation\/\">Genetic tests<\/a> are offered in private laboratories, doctors study DNA before prescribing drugs, and the terms &quot;mutation&quot; and &quot;variant&quot; have become commonplace even in daily news. But what exactly does a mutation mean? And how does it affect health?<\/p>\n<h2 class=\"\" data-start=\"437\" data-end=\"486\"><strong data-start=\"440\" data-end=\"486\">Comparison: mutations are like errors in the text<\/strong><\/h2>\n<p class=\"\" data-start=\"488\" data-end=\"718\">Imagine that DNA is an instruction set of millions of letters. Each gene is like a sentence, and a mutation is a mistake in one letter. Sometimes such a mistake does not change the meaning (neutral mutation), sometimes it leads to a broken sentence (pathogenic mutation).<\/p>\n<h3 class=\"\" data-start=\"720\" data-end=\"747\">Types of &quot;errors&quot; in genes:<\/h3>\n<ul data-start=\"749\" data-end=\"1005\">\n<li class=\"\" data-start=\"749\" data-end=\"850\">\n<p class=\"\" data-start=\"751\" data-end=\"850\"><strong data-start=\"751\" data-end=\"784\">Substitution (missense mutation)<\/strong>: one letter is replaced by another \u2014 for example, the word &quot;cat&quot; becomes &quot;lit&quot;\u00ab<\/p>\n<\/li>\n<li class=\"\" data-start=\"851\" data-end=\"896\">\n<p class=\"\" data-start=\"853\" data-end=\"896\"><strong data-start=\"853\" data-end=\"864\">Deletion<\/strong>: a letter dropped out \u2014 &quot;kit&quot; \u2192 &quot;kt&quot;\u00ab<\/p>\n<\/li>\n<li class=\"\" data-start=\"897\" data-end=\"950\">\n<p class=\"\" data-start=\"899\" data-end=\"950\"><strong data-start=\"899\" data-end=\"911\">Insertion<\/strong>: added an extra letter \u2014 &quot;kit&quot; \u2192 &quot;klit&quot;\u00ab<\/p>\n<\/li>\n<li class=\"\" data-start=\"951\" data-end=\"1005\">\n<p class=\"\" data-start=\"953\" data-end=\"1005\"><strong data-start=\"953\" data-end=\"972\">Nonsense mutation<\/strong>: the word is cut off \u2014 &quot;cat&quot; \u2192 &quot;k&quot;\u00ab<\/p>\n<\/li>\n<\/ul>\n<h2 class=\"\" data-start=\"1007\" data-end=\"1060\"><strong data-start=\"1010\" data-end=\"1060\">Example: genetic \u00absignature\u00bb of a hereditary disease<\/strong><\/h2>\n<p class=\"\" data-start=\"1062\" data-end=\"1282\">A well-known example is the \u0394F508 mutation in the CFTR gene, which causes cystic fibrosis. In this case, the absence of a single amino acid disrupts the transport of ions in cells, leading to serious pulmonary and digestive complications.<\/p>\n<p class=\"\" data-start=\"1284\" data-end=\"1594\">Another example is mutations in the BRCA1\/2 genes. Their presence significantly increases the risk of developing breast and ovarian cancer. That is why women with a positive family history are recommended to undergo a special genetic test (<a class=\"\" href=\"https:\/\/www.mayoclinic.org\/tests-procedures\/brca-gene-test\/about\/pac-20384815\" target=\"_new\" rel=\"noopener\" data-start=\"1500\" data-end=\"1592\">Mayo Clinic<\/a>).<\/p>\n<p data-start=\"1284\" data-end=\"1594\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-9019\" src=\"https:\/\/medilab.km.ua\/wp-content\/themes\/woodmart\/images\/lazy.svg\" data-src=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9.jpg\" alt=\"DNA sequencing laboratory process\" width=\"1200\" height=\"645\" srcset=\"\" data-srcset=\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9.jpg 1200w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9-150x81.jpg 150w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9-600x323.jpg 600w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9-300x161.jpg 300w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9-1024x550.jpg 1024w, https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/04\/11-9-768x413.jpg 768w\" sizes=\"auto, (max-width: 1200px) 100vw, 1200px\" \/><\/p>\n<h2 class=\"\" data-start=\"1596\" data-end=\"1637\"><strong data-start=\"1599\" data-end=\"1637\">How to find out if a mutation is present<\/strong><\/h2>\n<div class=\"overflow-x-auto contain-inline-size\">\n<table data-start=\"1639\" data-end=\"2242\">\n<thead data-start=\"1639\" data-end=\"1739\">\n<tr data-start=\"1639\" data-end=\"1739\">\n<th data-start=\"1639\" data-end=\"1663\">Method<\/th>\n<th data-start=\"1663\" data-end=\"1701\">What is researching?<\/th>\n<th data-start=\"1701\" data-end=\"1739\">Where is it used?<\/th>\n<\/tr>\n<\/thead>\n<tbody data-start=\"1840\" data-end=\"2242\">\n<tr data-start=\"1840\" data-end=\"1938\">\n<td>PCR<\/td>\n<td>point changes in individual genes<\/td>\n<td>tests for hereditary diseases<\/td>\n<\/tr>\n<tr data-start=\"1939\" data-end=\"2038\">\n<td>NGS<\/td>\n<td>tens of thousands of genes simultaneously<\/td>\n<td>cancer diagnosis, rare mutations<\/td>\n<\/tr>\n<tr data-start=\"2039\" data-end=\"2138\">\n<td>Karyotyping<\/td>\n<td>number and shape of chromosomes<\/td>\n<td>syndromes, such as Down&#039;s<\/td>\n<\/tr>\n<tr data-start=\"2139\" data-end=\"2242\">\n<td>MLPA, FISH<\/td>\n<td>structural changes, deletions, duplications<\/td>\n<td>oncogenetics, prenatal diagnostics<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<h2 class=\"\" data-start=\"2244\" data-end=\"2293\"><strong data-start=\"2247\" data-end=\"2293\">How mutations accumulate and what causes them<\/strong><\/h2>\n<p class=\"\" data-start=\"2295\" data-end=\"2401\">Although most mutations are inherited, many of them can arise under the influence of external factors:<\/p>\n<ul data-start=\"2403\" data-end=\"2535\">\n<li class=\"\" data-start=\"2403\" data-end=\"2444\">\n<p class=\"\" data-start=\"2405\" data-end=\"2444\">Radiation (UV radiation, X-rays)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2445\" data-end=\"2476\">\n<p class=\"\" data-start=\"2447\" data-end=\"2476\">Toxins (e.g., benzene)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2477\" data-end=\"2504\">\n<p class=\"\" data-start=\"2479\" data-end=\"2504\">Viruses (e.g. HPV)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2505\" data-end=\"2535\">\n<p class=\"\" data-start=\"2507\" data-end=\"2535\">Errors in cell division<\/p>\n<\/li>\n<\/ul>\n<p class=\"\" data-start=\"2537\" data-end=\"2778\">If cells cannot cope with these errors (DNA repair is impaired), the risk of malignant tumors increases. According to <a class=\"\" href=\"https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/cancer\" target=\"_new\" rel=\"noopener\" data-start=\"2652\" data-end=\"2714\">WHO<\/a>, almost 30% of cancer cases are linked to genetic changes.<\/p>\n<h2 class=\"\" data-start=\"2780\" data-end=\"2815\"><strong data-start=\"2783\" data-end=\"2815\">Genetics and the future of medicine<\/strong><\/h2>\n<p class=\"\" data-start=\"2817\" data-end=\"2942\">Today, mutations are not a death sentence. On the contrary, they have become the key to personalized medicine. Knowledge of the mutation profile allows:<\/p>\n<ul data-start=\"2944\" data-end=\"3121\">\n<li class=\"\" data-start=\"2944\" data-end=\"2994\">\n<p class=\"\" data-start=\"2946\" data-end=\"2994\">select individual medications (pharmacogenetics)<\/p>\n<\/li>\n<li class=\"\" data-start=\"2995\" data-end=\"3034\">\n<p class=\"\" data-start=\"2997\" data-end=\"3034\">predict response to chemotherapy<\/p>\n<\/li>\n<li class=\"\" data-start=\"3035\" data-end=\"3066\">\n<p class=\"\" data-start=\"3037\" data-end=\"3066\">predict disease risks<\/p>\n<\/li>\n<li class=\"\" data-start=\"3067\" data-end=\"3121\">\n<p class=\"\" data-start=\"3069\" data-end=\"3121\">to carry out genetic correction (in the future - <a href=\"https:\/\/medilab.km.ua\/en\/crispr-diagnostics-revolutionizes-the-accuracy-and-speed-of-disease-detection\/\">CRISPR<\/a>)<\/p>\n<\/li>\n<\/ul>\n<p>Knowing about genetic mutations is a way not only to learn about potential risks, but also to get a personalized medical strategy. The future of medicine starts today with a small change in DNA.<\/p>","protected":false},"excerpt":{"rendered":"<p>Context: Why mutations are increasingly being talked about In the 21st century, genetics has ceased to be just a field of academic research. Genetic tests offer<\/p>","protected":false},"author":97,"featured_media":9017,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9016","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog"],"_links":{"self":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9016","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/users\/97"}],"replies":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/comments?post=9016"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9016\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9017"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9016"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9016"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9016"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}