{"id":549,"date":"2020-09-18T09:17:28","date_gmt":"2020-09-18T12:17:28","guid":{"rendered":"http:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/?p=549"},"modified":"2020-12-02T18:19:05","modified_gmt":"2020-12-02T21:19:05","slug":"amyotrophic-lateral-sclerosis","status":"publish","type":"post","link":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/amyotrophic-lateral-sclerosis\/","title":{"rendered":"Amyotrophic lateral sclerosis"},"content":{"rendered":"\t\t
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS is clear, which leads to the absence of an effective treatment strategy. The genetic cause of the disease confirmed in 5% of the cases; however, sporadic and hereditary forms share the molecular peculiarities of the disease development. Animal models obtained through the years did not help to clarify the details of ALS initiation and propagation due to incomplete reproduction of the disease pathogenesis. To unravel processes that are leading to motor neuron degeneration, we obtained IPSCs from a patient with the hereditary form of ALS with Asp90Ala mutation in the SOD1<\/em> gene which supposedly leads to misfolding and aggregation of SOD1 protein. Alongside with C9ORF72 hexanucleotide expansion and TDP-43<\/em> mutations, SOD1<\/em> mutations are the most common among patients with hereditary ALS. The results obtained from ALS iPSCs-derived motor neurons can be translated on other hereditary forms of ALS as well as on the non-hereditary (sporadic).<\/p>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Characterization of ICGi014-A line. A. Morphology of the iPSC colonies (Scale bar \u2013 200 \u03bcm). B. Immunofluorescence staining for pluripotency markers OCT4, NANOG, SOX2, SSEA4, TRA-1-60 (Scale bar 100 \u2013 \u03bcm). C. Analysis of pluripotency markers (OCT4, NANOG, SOX2) expression by RT qPCR. D. Karyotype (G-banding) (46, XY) of ICGi014-A line. E. In vitro differentiation. Immunofluorescence staining for differentiation markers: NF200 (ectoderm), \u03b1SMA (mesoderm), AFP (endoderm) after spontaneous differentiation of ICGi014-A line in ebmryoid bodies (Scale bar NF200 - 250 \u03bcm, aSMA, AFP \u2013 100 \u03bcm). F. Mutation analysis. Sanger sequencing of exon 4 of the SOD1 gene in HEK293FT (control), and iPSC line ICGi014-A showing A>C substitution in both alleles marked with a black arrow.<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS is clear, which leads to the absence of an effective treatment strategy. The genetic cause of the disease confirmed in 5% of the cases; however, sporadic and hereditary forms share the molecular peculiarities of the disease development. Animal models obtained through the years did not help to clarify the details of ALS initiation and propagation due to incomplete reproduction of the disease pathogenesis. To unravel processes that are leading to motor neuron degeneration, we obtained IPSCs from a patient with the hereditary form of ALS with Asp90Ala mutation in the SOD1<\/em> gene which supposedly leads to misfolding and aggregation of SOD1 protein. Alongside with C9ORF72 hexanucleotide expansion and TDP-43<\/em> mutations, SOD1<\/em> mutations are the most common among patients with hereditary ALS. The results obtained from ALS iPSCs-derived motor neurons can be translated on other hereditary forms of ALS as well as on the non-hereditary (sporadic).<\/p>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS is clear, which leads to the absence of an effective treatment strategy. The genetic cause of the disease confirmed in 5% of the cases; however, sporadic and hereditary forms share the molecular peculiarities […]<\/p>\n","protected":false},"author":31,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"elementor_header_footer","format":"standard","meta":[],"categories":[2],"tags":[55,59],"_links":{"self":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/549"}],"collection":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/users\/31"}],"replies":[{"embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/comments?post=549"}],"version-history":[{"count":12,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/549\/revisions"}],"predecessor-version":[{"id":1813,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/posts\/549\/revisions\/1813"}],"wp:attachment":[{"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/media?parent=549"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/categories?post=549"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sites.icgbio.ru\/zakianlab-ipsccollection\/wp-json\/wp\/v2\/tags?post=549"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}