家族性クレウツフェルト=ヤコブ病 (コドン200変異) で,超核性麻痺がある
J M Bertoni1, P Brown, L G Goldfarb
1Department of Neurology, Creighton University, Omaha, Neb 68131-2197.
JAMA
|November 4, 1992
まとめ
PRNP遺伝子 (codon 200Lys) の遺伝子変異は,大家族における非典型的なクレッツフェルト・ヤコブ病 (CJD) と関連しています. この発見は,家族的なCJD現象型についての理解を広げています.
科学分野:
- 神経遺伝学 神経遺伝学
- プリオン病はプリオン病である.
- 分子生物学は分子生物学である.
背景:
- クルーツフェルト・ヤコブ病 (CJD) は,まれで致命的な神経変性疾患である.
- ファミリアルCJD (fCJD) は少数症例を占め,遺伝子の変異と関連しています.
- fCJDの非典型的なプレゼンテーションは,診断上の課題をもたらします.
関連する概念動画
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01:39Mutations
Overview
01:35Mutations
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Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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While point mutations are changes in a single nucleotide in...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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