{"id":10288,"date":"2021-04-16T16:23:58","date_gmt":"2021-04-16T13:23:58","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=10288"},"modified":"2021-04-16T16:24:00","modified_gmt":"2021-04-16T13:24:00","slug":"kas-mitokondrisi","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/kas-mitokondrisi\/","title":{"rendered":"Kas Mitokondrisi"},"content":{"rendered":"\n
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(Mitokondriler. G\u00f6rsel Kayna\u011f\u0131: 3d_man\/<\/a>Shutterstock<\/a>)<\/figcaption><\/figure><\/div>\n\n\n\n

Mitokondri bozukluklar\u0131 kas hastal\u0131klar\u0131 i\u00e7in \u00f6nemli bir yere sahiptir. Mitokondri kaslara yeterli ATP\u2019yi sa\u011flamak amac\u0131yla oksidatif fosforilasyon yapar. Bu i\u015flem mitokondrinin i\u00e7 membran\u0131nda bulunan birden fazla alt birime sahip 5 polipeptid kompleksten olu\u015fan bir mekanizma taraf\u0131ndan y\u00fcr\u00fct\u00fcl\u00fcr. 5 kompleksten sadece Kompleks II<\/em>\u2019yi tamamen \u00e7ekirdek genomu kodlam\u0131\u015ft\u0131r. Di\u011fer komplekslerde hem \u00e7ekirdek hem de mitokondri genomu taraf\u0131ndan kodlanan alt birimler bulunur. Mitokondri genomu bu mekanizmada bulunan sadece 13 proteini ve mitokondri i\u00e7i protein sentezi i\u00e7in 24 RNA\u2019y\u0131 kodlar. Kastaki t\u00fcm mitokondrilerin genomunda ayn\u0131 defekt bulunuyorsa bu durum Homoplazmi<\/em>, ayn\u0131 defekt sadece baz\u0131 mitokondrilerde bulunuyorsa da bu durum Heteroplazmi<\/em> olarak adland\u0131r\u0131l\u0131r.<\/p>\n\n\n\n

Heteroplazmide<\/em> biyokimyasal defektin \u015fiddeti mitokondriyal DNA\u2019n\u0131n  (mtDNA<\/em>) mutasyon seviyesine ba\u011fl\u0131d\u0131r. mtDNA<\/em>\u2019da olan mutasyon ne kadar \u015fiddetliyse ilgili biyokimyasal defekt o kadar fazla olur. Ancak mitokondride hem mtDNA\u2019n\u0131n hem de \u00e7ekirdek DNA\u2019s\u0131n\u0131n (nDNA<\/em>) \u00fcretti\u011fi proteinler yer ald\u0131\u011f\u0131 i\u00e7in bu organele ba\u011fl\u0131 geli\u015fen hastal\u0131klar, hem mtDNA<\/em>\u2019dan hem de nDNA\u2019dan kaynakl\u0131 olabilir. mtDNA<\/em>\u2019dan kaynakl\u0131ysa maternaldir ancak nDNA<\/em>\u2019dan kaynakl\u0131ysa otozomal resesif, otozomal dominant ya da X\u2019e ba\u011fl\u0131 olabilir.<\/p>\n\n\n\n

Mitokondri miyopatileri her ya\u015fta g\u00f6r\u00fclebilir. Kas mitokondri bozuklu\u011fu i\u00e7eren hastal\u0131klar aras\u0131nda Kronik Progresif Eksternal Oftalmoplejiya<\/em> (CPEO<\/em>), Progresif Proksimal Miyopati<\/em>, kas a\u011fr\u0131s\u0131, egzersiz intolerans\u0131, yorgunluk ve Rabdomiyoliz<\/em> bulunur. mtDNA Deplesyon Sendromu<\/em> genellikle bebeklikte g\u00f6r\u00fcl\u00fcr. Baz\u0131 hastalarda da \u015fiddetli miyopati g\u00f6r\u00fcl\u00fcr ve bunun genetik sebebi de mitokondriyal Timidin Kinaz<\/em> geninin (TK2<\/em>) mutasyonudur.<\/p>\n\n\n\n

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(Kol kaslar\u0131 ve sinirleri. G\u00f6rsel Kayna\u011f\u0131: BigBlueStudio\/Shutterstock<\/a>, ID: 1901861329)<\/figcaption><\/figure><\/div>\n\n\n\n

Mitokondri genomu, replikasyon i\u00e7in n\u00fckleer DNA\u2019n\u0131n \u00fcretti\u011fi proteinlere ba\u011f\u0131ml\u0131d\u0131r. Bu proteinlerden baz\u0131lar\u0131 DNA Polimeraz Gamma<\/em>, Twinkle<\/em> proteini (Twinkle Helikaz<\/em>), ANT1<\/em> ve Timidin Fosforilaz<\/em>\u2019d\u0131r. OPA1<\/em> geninin mutasyonu Dominant Optik Atrofi<\/em>\u2019ye yol a\u00e7arken ayn\u0131 zamanda oftalmopleji, ataksi, sa\u011f\u0131rl\u0131k, disfaji, proksimal miyopati ve periferal miyopatiyle ili\u015fkilidir. H\u00fccresel d\u00fczeyde OPA1<\/em> mutasyonu mitokondri birle\u015fmesini engeller. Bu \u00f6zellik MFN2<\/em> geni i\u00e7in de ge\u00e7erlidir ve bu genin mutasyonu Tip 2A Charcot-Marie-Tooth<\/em> hastal\u0131\u011f\u0131n\u0131n en yayg\u0131n sebebidir.<\/p>\n\n\n\n

Kas mitokondri hastal\u0131klar\u0131na neden olan mitokondri solunum zinciri bozukluklar\u0131 ve bu bozukluklara neden olan baz\u0131 n\u00fckleer genler s\u0131rayla a\u015fa\u011f\u0131dad\u0131r:<\/p>\n\n\n\n

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(\u0130nsan h\u00fccresi. G\u00f6rsel Kayna\u011f\u0131: CI Photos\/Shutterstock<\/a>, ID: 1869915514)<\/figcaption><\/figure><\/div>\n\n\n\n

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

  1. Taylor, Robert W., et al. “The diagnosis of mitochondrial muscle disease.” Neuromuscular Disorders 14.4 (2004): 237-245.<\/li>
  2. McFarland, Robert, Robert W. Taylor, and Douglass M. Turnbull. “A neurological perspective on mitochondrial disease.” The Lancet Neurology 9.8 (2010): 829-840.<\/li><\/ol>\n\n\n\n

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

    1. 3d_man\/Shutterstock<\/a><\/li>
    2. Shutterstock<\/a>, ID: 1901861329<\/li>
    3. CI Photos\/Shutterstock<\/a>, ID: 1869915514<\/li><\/ol>\n","protected":false},"excerpt":{"rendered":"

      Mitokondri bozukluklar\u0131 kas hastal\u0131klar\u0131 i\u00e7in \u00f6nemli bir yere sahiptir. Mitokondri kaslara yeterli ATP\u2019yi sa\u011flamak amac\u0131yla oksidatif fosforilasyon yapar. Bu i\u015flem<\/p>\n","protected":false},"author":267,"featured_media":10290,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,25],"tags":[73,74,894,196,1995,274,1376,149,115,810,1187,92,1939,1363,1211,514,76,1248,1994,956,1224],"acf":[],"views":953,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10288"}],"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=10288"}],"version-history":[{"count":8,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10288\/revisions"}],"predecessor-version":[{"id":10306,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10288\/revisions\/10306"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/10290"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=10288"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=10288"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=10288"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}