{"id":8960,"date":"2020-12-15T10:26:59","date_gmt":"2020-12-15T07:26:59","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=8960"},"modified":"2020-12-15T23:42:16","modified_gmt":"2020-12-15T20:42:16","slug":"insan-genom-serisi-2-otizm-genetik-mi-de-novo-mu","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/insan-genom-serisi-2-otizm-genetik-mi-de-novo-mu\/","title":{"rendered":"\u0130NSAN GENOM SER\u0130S\u0130 \u2013 2: Otizm Genetik Mi De Novo Mu?"},"content":{"rendered":"\n
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(Otistik \u00e7ocuk. G\u00f6rsel Kayna\u011f\u0131: Olesia Bilkei\/Shutterstock<\/a>)<\/figcaption><\/figure>\n\n\n\n

Giri\u015f<\/p>\n\n\n\n

Otizm Spektrum Bozuklu\u011fu\n(ASD) sosyalle\u015fme ve ileti\u015fimde bozukluk, ilgisizlik ve tekrarlayan\ndavran\u0131\u015flarla kendini g\u00f6steren kal\u0131tsal bir n\u00f6rogeli\u015fimsel hastal\u0131kt\u0131r. Belirtileri\ngenelde 5 ya\u015fa kadar ortaya \u00e7\u0131kar. Genelde kendini ifade etme kabiliyeti anlama\nyetene\u011finden zay\u0131ft\u0131r. Zeka gerili\u011fi ve anksiyete en \u00e7ok rastalanan\n\u00f6zelliklerdir. Epilepsi ve uyku problemi g\u00f6r\u00fclebilir. Otistik bir \u00e7ocuk kendi\nzeka durumunu da kavrayamaz. Buna kar\u015f\u0131n her ASD hastas\u0131 psikolojik deste\u011fe\nmuhta\u00e7 de\u011fildir. Ba\u011f\u0131ms\u0131z olarak ya\u015fayanlar da vard\u0131r. <\/p>\n\n\n\n

ASD d\u00fcnya genelinde\ngitgide artmaktad\u0131r ve her 10000 ki\u015fiden 15-20\u2019sinde g\u00f6r\u00fclmektedir. \u00c7ocuklar\u0131n\nda her 160\u2019\u0131nda 1 g\u00f6r\u00fcl\u00fcr. Otistik erkeklerin say\u0131s\u0131 otistik kad\u0131nlar\u0131n\nsay\u0131s\u0131ndan 4 kat fazlad\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131 a\u015f\u0131lar\u0131 ASD riskini artt\u0131rmaz. <\/p>\n\n\n\n

Genetik \u00d6zellikler <\/p>\n\n\n\n

Otizme 16p11.2<\/em> Mikrodelesyon Sendromu (MIM\n611913) da denir. Fakat baz\u0131 ki\u015filerde bu sendrom olmas\u0131na ra\u011fmen ASD gibi zeka\ngerili\u011fine sebep olan bir durum g\u00f6r\u00fclmedi\u011fi i\u00e7in 16p11.2<\/em> mikrodelesyonu ASD i\u00e7in evrensel de\u011fildir. Mikrodelesyon otozomal\ndominantt\u0131r ve toplum genelindeki insidans\u0131 0.03%\u2019t\u00fcr. Ne kadar kal\u0131tsal oldu\u011fu\nsan\u0131lsa da genelde de novo<\/em>\u2019dur, bir\nmutajen sonucu ortaya \u00e7\u0131kar. Sa\u011fl\u0131kl\u0131 anne veya babadan aktar\u0131labilir. ASD\u2019li\nki\u015filer \u00f6zellikle ergenlikten itibaren kilo almaya yatk\u0131nd\u0131r. Muhtemelen bunun\nsebebi SH2B1<\/em> ya da ba\u015fka genlerin\nhaployetersizli\u011fidir. Bu bireyler ayr\u0131ca toplum geneline g\u00f6re daha \u00e7ok n\u00f6bet\nge\u00e7irir. Baz\u0131lar\u0131nda kalp kapak\u00e7\u0131k deformasyonu da g\u00f6r\u00fcl\u00fcr. Mikrodelesyon,\naileden aktar\u0131ld\u0131\u011f\u0131nda penetrasyon eksik oldu\u011fu i\u00e7in gene sahip iki karde\u015f de\nfarkl\u0131 \u00f6zelliklere sahip olabilir. \u00d6rne\u011fin biri ortalama di\u011feri de d\u00fc\u015f\u00fck zekal\u0131\nolabilir. <\/p>\n\n\n\n

16.p11.2<\/em>\nmikroduplikasyonu ise yakla\u015f\u0131k 15 kat daha fazla \u015fizofreni riski ta\u015f\u0131r. Bu\nduplikasyon ASD hastalar\u0131nda da g\u00f6r\u00fcl\u00fcr ancak sa\u011fl\u0131kl\u0131 bireylerde de rastlan\u0131r.\nDaha \u00e7ok sa\u011fl\u0131kl\u0131 bir ebeveynden ge\u00e7er. <\/p>\n\n\n\n

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(Otizm. G\u00f6rsel Kayna\u011f\u0131: Chrupka\/Shutterstock<\/a>)<\/a><\/figcaption><\/figure>\n\n\n\n

Otizm riskini artt\u0131ran bin\nkadar gen tespit edilmi\u015ftir. Bunlardan ikisi ZNF385B <\/em>ve COMT<\/em>\u2019tur. ZNF385B<\/em> geninin iki ve COMT<\/em> geninin bir varyant\u0131n\u0131n ASD ile\nili\u015fkili oldu\u011fu belirlenmi\u015ftir. ZNF385B <\/em>beyinde\naktiftir ve gen ifadesinde g\u00f6revli transkripsiyon fakt\u00f6rleri \u00fcretir. Bilince\netkisi b\u00fcy\u00fckt\u00fcr ve delesyonu n\u00f6rolojik bozukluklara yol a\u00e7ar. COMT<\/em> da ASD\u2019nin yan\u0131 s\u0131ra \u015fizofreni,\nanksiyete, obsesif-kompulsif bozukluk, Parkinson ve Dikkat Eksikli\u011fi\nHiperaktivite Bozuklu\u011fu\u2019yla ili\u015fkilidir. COMT<\/em>\nenzimi katekolamin n\u00f6rotransmiterleri metiller ve onlar\u0131 ya par\u00e7alar ya da\ninaktive eder. Ayr\u0131ca dopamin metabolizmas\u0131na da etki edebilir. Dolay\u0131s\u0131yla\nbeynin prefrontal dopaminerjik fonksiyonunu etkiler. Katekolamin inaktivasyonu\nve dopamin modulasyonu bilinci, karakteri, duygular\u0131, soyut d\u00fc\u015f\u00fcnmeyi, sosyal\ndavran\u0131\u015flar\u0131 ve k\u0131sa d\u00f6nemli haf\u0131zay\u0131 k\u00f6t\u00fc etkiler. <\/p>\n\n\n\n

DNA metilasyonu ve di\u011fer epigenetik de\u011fi\u015fimler de otizmi etkilemektedir. Y\u00fcksek \u0130\u015flevli Otizm\u2019in IQ seviyesi genelde 70 ve \u00fczeri olarak de\u011ferlendirilir. Bu bireyler genelde IQ testlerinde y\u00fcksek ba\u015far\u0131 g\u00f6sterirler. Ancak aralar\u0131nda ortalama olanlar da vard\u0131r. \u0130kinci ve \u00fc\u00e7\u00fcnc\u00fc seviye otizmde durum daha ciddidir. Baz\u0131 genetik \u00f6zellikler otizmin yatk\u0131n oldu\u011fu seviyeyi belirler. \u00d6rne\u011fin de novo, <\/em>kal\u0131tsal genler ve gen bozucu Kopya Say\u0131s\u0131 De\u011fi\u015fiklikleri (CNV: Copy Number Variant) ASD\u2019li bireylerin %30\u2019unda zeka gerili\u011fine yol a\u00e7arken Tek N\u00fckleotid Polimorfizmi (SNP: Single Nucleotide Polymorphism) ve Kopya Say\u0131s\u0131 Polimorfizmi (CNP: Copy Number Polymorphism) ASD\u2019li bireylerde Y\u00fcksek \u0130\u015flevli Otizm\u2019in geli\u015fmesini sa\u011flar. <\/a> IQ seviyesi 70-85 aras\u0131 olan hastalar s\u0131n\u0131rdad\u0131r ve %25\u2019lik k\u0131sm\u0131 olu\u015fturur. 85 \u00fczeriyse hastalar\u0131n %45\u2019inden olu\u015fur. <\/p>\n\n\n\n

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(Otizm. G\u00f6rsel Kayna\u011f\u0131: StepanPopov\/Shutterstock<\/a>)<\/figcaption><\/figure>\n\n\n\n

Bilgi Kaynak\u00e7as\u0131<\/p>\n\n\n\n

  1. ScienceDirect. Uddin et. al.. \u201cGenetic variants of ZNF385B and COMT are associated with autism spectrum disorder in the Bangladeshi children\u201d Meta Gene. <\/em>(26). Aral\u0131k 2020. <\/li>
  2. ScienceDirect. Toma, Claudio. \u201cGenetic Variation across Phenotypic Severity of Autism\u201d Trends in Genetics<\/em>. 36:(4), 228-231. Nisan 2020.<\/li>
  3. Genetics in Medicine. Thompson & Thompson. \u201cCase 5: Autism\/16p11.2 Deletion Syndrome (Susceptibility to Autism Spectrum Disorders, MIM 611913)\u201d 401-402. Eighth Edition (2016). <\/li>
  4. World Health Organization. 07.11.2019, 13.12.2020. https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/autism-spectrum-disorders<\/a> <\/li><\/ol>\n\n\n\n

    G\u00f6rsel Kaynak\u00e7as\u0131<\/p>\n\n\n\n

    1. StepanPopov\/Shutterstock<\/a> <\/li>
    2. Olesia Bilkei\/Shutterstock<\/a> <\/li>
    3. Chrupka\/Shutterstock<\/a> <\/li><\/ol>\n\n\n\n

      <\/p>\n\n\n\n

      <\/p>\n\n\n\n

      <\/p>\n","protected":false},"excerpt":{"rendered":"

      Giri\u015f Otizm Spektrum Bozuklu\u011fu (ASD) sosyalle\u015fme ve ileti\u015fimde bozukluk, ilgisizlik ve tekrarlayan davran\u0131\u015flarla kendini g\u00f6steren kal\u0131tsal bir n\u00f6rogeli\u015fimsel hastal\u0131kt\u0131r. Belirtileri<\/p>\n","protected":false},"author":267,"featured_media":8965,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,25],"tags":[1498,1497,1500,274,1502,149,1228,115,1187,249,990,92,1363,956,1501,1499,245,1371,1385,265,110],"acf":[],"views":653,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/8960"}],"collection":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/users\/267"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=8960"}],"version-history":[{"count":5,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/8960\/revisions"}],"predecessor-version":[{"id":8986,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/8960\/revisions\/8986"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/8965"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=8960"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=8960"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=8960"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}