Related Experiment Video
Updated: Jul 4, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
[Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region]
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 People's Republic of China .
Abstract:
Hereditary spinocerebellar ataxias(SCA) are mainly caused by trinucleotide (CAG/CAA) repeat expansion in open reading frames of corresponding gene. However, SCA8, SCA10 and SCA12 are caused by nucleotide repeat expansion in noncoding region. Recent researches focus on the pathogenesis and hereditary traits, including the instability of nucleotide repeat, the alteration of penetrance, the bias of gender inheritance and the anticipation. The pathogenesis of these three SCA subtypes is different from other subtypes because the repeat expansion in noncoding region has mild influence on translation of polyQ protein. We suggest that the interference on DNA transcription by the abnormal nucleotide expansion, the post-transcriptional toxic effect of abnormal RNA, and the mechanism of bidirectional expression of repeat expansion transcripts play a critical role on SCA8, SCA10 and SCA12 pathogenesis.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Huntington Disease l: Introduction
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
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
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Single Nucleotide Polymorphisms-SNPs
