Enzyme/ja: Difference between revisions

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酵素の経口投与は、[[pancreatic insufficiency/ja|膵臓機能不全]]や[[lactose intolerance/ja|乳糖不耐症]]など、いくつかの機能性酵素欠損症の治療に用いることができる。

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~~Another way enzyme malfunctions can cause disease comes from~~ [[~~germline mutation~~]]~~s in genes coding for~~ [[~~DNA repair~~]] ~~enzymes. Defects in these enzymes cause cancer because cells are less able to repair mutations in their~~ [[genome]]~~s. This causes a slow accumulation of mutations and results in the~~ [[carcinogenesis|~~development of cancers~~]]~~. An example of such a hereditary~~ [[cancer syndrome]] is [[xeroderma pigmentosum]]~~, which causes the development of~~ [[~~skin cancer~~]]~~s in response to even minimal exposure to~~ [[~~ultraviolet light~~]].

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 酵素の経口投与は、[[pancreatic insufficiency/ja|膵臓機能不全]]や[[lactose intolerance/ja|乳糖不耐症]]など、いくつかの機能性酵素欠損症の治療に用いることができる。
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+酵素の機能不全が病気を引き起こすもう一つの方法は、[[DNA repair/ja|DNA修復]]酵素をコードする遺伝子の[[germline mutation/ja|生殖細胞系列変異]]によるものである。これらの酵素に欠陥があると、細胞が[[genome/ja|ゲノム]]の変異を修復する能力が低下するため、癌が発生する。これにより突然変異がゆっくりと蓄積され、[[carcinogenesis/ja|癌の発生]]に至る。このような遺伝性[[cancer syndrome/ja|がん症候群]]の例として、[[xeroderma pigmentosum/ja|色素性乾皮症]]があり、[[:en:ultraviolet light|紫外線]]へのわずかな曝露でも[[skin cancer/ja|皮膚がん]]の発症を引き起こす。
-Another way enzyme malfunctions can cause disease comes from [[germline mutation]]s in genes coding for [[DNA repair]] enzymes. Defects in these enzymes cause cancer because cells are less able to repair mutations in their [[genome]]s. This causes a slow accumulation of mutations and results in the [[carcinogenesis|development of cancers]]. An example of such a hereditary [[cancer syndrome]] is [[xeroderma pigmentosum]], which causes the development of [[skin cancer]]s in response to even minimal exposure to [[ultraviolet light]].
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