{"id":47,"date":"2023-01-08T11:50:02","date_gmt":"2023-01-08T11:50:02","guid":{"rendered":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/?post_type=chapter&#038;p=47"},"modified":"2023-03-02T01:40:18","modified_gmt":"2023-03-02T01:40:18","slug":"mitochondrial-gene-mutations-and-human-disease","status":"publish","type":"chapter","link":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/chapter\/mitochondrial-gene-mutations-and-human-disease\/","title":{"raw":"Mitochondrial gene mutations and human diseases","rendered":"Mitochondrial gene mutations and human diseases"},"content":{"raw":"<p style=\"text-align: justify\">As mitochondrial genes are inherited only from the mother, mutation in a mitochondrial gene, is passed from a mother to all of her children; sons will not pass it on, but daughters will pass it on to all of their children, and so on.<\/p>\r\n<p style=\"text-align: justify\"><strong>Mitochondrial DNA mutations are often deletions or point mutations<\/strong>. In general \u00a01 in 400 person has a maternally inherited pathogenic mitochondrial DNA mutation . In individual families ,it is difficult to distinguish whether mitochondrial inheritance is from autosomal dominant or from\u00a0 X-linked inheritance, but however , the sex of the transmitting and non transmitting parents can suggest a mitochondrial basis<\/p>\r\n<p style=\"text-align: justify\"><span>A nuclear gene, called\u00a0<\/span><strong><span class=\"ontologyTermLink\">DNA polymerase<\/span>\u00a0gamma ( POL G)<\/strong><span>\u00a0encodes the DNA polymerase responsible for replicating the mitochondrial genome. The POLG\u00a0<\/span><span class=\"ontologyTermLink\">protein<\/span><span>\u00a0consists of two domains: a catalytic domain that exhibits polymerase activity, and an\u00a0<\/span><span class=\"glossaryTermLink\">exonuclease<\/span><span>\u00a0domain that is involved in the recognition and removal of DNA base pair mismatches <\/span><span>that occur during DNA\u00a0<\/span><span class=\"ontologyTermLink\">replication<\/span><span>. A recent study suggests that mitochondria may have a nucleotide imbalance that leads to decreased POLG fidelity and higher mitochondrial DNA mutation rates .<\/span><\/p>\r\n<p style=\"text-align: justify\"><strong>Mutations in mitochondrial DNA can lead to human genetic disorders.<\/strong><\/p>\r\n<p style=\"text-align: center\"><img src=\"http:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-1024x646.png\" alt=\"Image describing mitochondrial gene mutations and human diseases\" width=\"742\" height=\"468\" class=\"aligncenter wp-image-49\" \/><em style=\"font-size: 1em;text-align: initial\">Image from \"<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Mitochondrial.jpg\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial<\/a>,\" by the National Institutes of Health (public domain).<\/em><\/p>\r\n&nbsp;","rendered":"<p style=\"text-align: justify\">As mitochondrial genes are inherited only from the mother, mutation in a mitochondrial gene, is passed from a mother to all of her children; sons will not pass it on, but daughters will pass it on to all of their children, and so on.<\/p>\n<p style=\"text-align: justify\"><strong>Mitochondrial DNA mutations are often deletions or point mutations<\/strong>. In general \u00a01 in 400 person has a maternally inherited pathogenic mitochondrial DNA mutation . In individual families ,it is difficult to distinguish whether mitochondrial inheritance is from autosomal dominant or from\u00a0 X-linked inheritance, but however , the sex of the transmitting and non transmitting parents can suggest a mitochondrial basis<\/p>\n<p style=\"text-align: justify\"><span>A nuclear gene, called\u00a0<\/span><strong><span class=\"ontologyTermLink\">DNA polymerase<\/span>\u00a0gamma ( POL G)<\/strong><span>\u00a0encodes the DNA polymerase responsible for replicating the mitochondrial genome. The POLG\u00a0<\/span><span class=\"ontologyTermLink\">protein<\/span><span>\u00a0consists of two domains: a catalytic domain that exhibits polymerase activity, and an\u00a0<\/span><span class=\"glossaryTermLink\">exonuclease<\/span><span>\u00a0domain that is involved in the recognition and removal of DNA base pair mismatches <\/span><span>that occur during DNA\u00a0<\/span><span class=\"ontologyTermLink\">replication<\/span><span>. A recent study suggests that mitochondria may have a nucleotide imbalance that leads to decreased POLG fidelity and higher mitochondrial DNA mutation rates .<\/span><\/p>\n<p style=\"text-align: justify\"><strong>Mutations in mitochondrial DNA can lead to human genetic disorders.<\/strong><\/p>\n<p style=\"text-align: center\"><img decoding=\"async\" src=\"http:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-1024x646.png\" alt=\"Image describing mitochondrial gene mutations and human diseases\" width=\"742\" height=\"468\" class=\"aligncenter wp-image-49\" srcset=\"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-1024x646.png 1024w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-300x189.png 300w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-768x485.png 768w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-1536x969.png 1536w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-2048x1292.png 2048w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-65x41.png 65w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-225x142.png 225w, https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-content\/uploads\/sites\/18\/2023\/01\/Mitochondrial-Gene-mutations-Human-diseases-350x221.png 350w\" sizes=\"(max-width: 742px) 100vw, 742px\" \/><em style=\"font-size: 1em;text-align: initial\">Image from &#8220;<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Mitochondrial.jpg\" target=\"_blank\" rel=\"noopener noreferrer\">Mitochondrial<\/a>,&#8221; by the National Institutes of Health (public domain).<\/em><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"author":5,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_uf_show_specific_survey":0,"_uf_disable_surveys":false,"pb_show_title":"on","pb_short_title":"Mitochondrial Gene mutations & Human disease","pb_subtitle":"","pb_authors":["malathi"],"pb_section_license":""},"chapter-type":[48],"contributor":[61],"license":[],"class_list":["post-47","chapter","type-chapter","status-publish","hentry","chapter-type-standard","contributor-malathi"],"aioseo_notices":[],"part":3,"_links":{"self":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapters\/47","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapters"}],"about":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/types\/chapter"}],"author":[{"embeddable":true,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/comments?post=47"}],"version-history":[{"count":9,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapters\/47\/revisions"}],"predecessor-version":[{"id":171,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapters\/47\/revisions\/171"}],"part":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/parts\/3"}],"metadata":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapters\/47\/metadata\/"}],"wp:attachment":[{"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/media?parent=47"}],"wp:term":[{"taxonomy":"chapter-type","embeddable":true,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/pressbooks\/v2\/chapter-type?post=47"},{"taxonomy":"contributor","embeddable":true,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/contributor?post=47"},{"taxonomy":"license","embeddable":true,"href":"https:\/\/pressbooks.justwrite.in\/mitochondrial-inheritance\/wp-json\/wp\/v2\/license?post=47"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}