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Patogenetika, Investigasi, dan Terapi Penyakit Mitokondria
Keywords:
Patogenetika, mitokondria, penyakit, penelitianSynopsis
Buku ini menjabarkan persoalan penyakit mitokondria yang diketahui berkaitan dengan atau disebabkan oleh mutasi pada gen mitokondria dan inti yang berpengaruh terhadap reaksi fosforilasi oksidatif, biogenesis mitokondria, dan jalur metabolisme lainnya.
Penyakit mitokondria terjadi karena adanya penghambatan proses respirasi dalam pembentukan ATP yang diperlukan dalam berbagai jaringan, terutama dalam sistem neuromuskular. Produksi radikal bebas, seperti radikal superoksida, juga dapat menyebabkan terjadinya penurunan fungsi mitokondria dan akan meningkatkan stres oksidatif di berbagai jaringan.Selain itu, akan dijabarkan pula perihal mutasi mtDNA yang diketahui berperan penting dalam penyakit mitokondria. Mutasi mtDNA meliputi mutasi titik (substitusi), delesi, dan insersi. Mutasi ini terjadi pada gen pengode protein, tRNA, dan rRNA. Ekspresi klinis dari mutasi substitusi sangat banyak, antara lain MELAS MERRF, MILS, dan MIDD
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