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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Translation01:31

Translation

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
Translation01:31

Translation

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

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Related Experiment Video

Updated: Jun 12, 2026

Analysis of Protein Folding, Transport, and Degradation in Living Cells by Radioactive Pulse Chase
08:59

Analysis of Protein Folding, Transport, and Degradation in Living Cells by Radioactive Pulse Chase

Published on: February 12, 2019

DE-loop mutations affect beta2 microglobulin stability, oligomerization, and the low-pH unfolded form.

Carlo Santambrogio1, Stefano Ricagno, Matteo Colombo

  • 1Department of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy.

Protein Science : a Publication of the Protein Society
|May 28, 2010
PubMed
Summary

Mutations in the DE-loop of beta2 microglobulin (beta2m) impact its stability and aggregation. These findings highlight the DE-loop's critical role in beta2m's structural properties and potential link to Dialysis Related Amyloidosis.

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Quantifying Tissue-Specific Proteostatic Decline in Caenorhabditis elegans
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Last Updated: Jun 12, 2026

Analysis of Protein Folding, Transport, and Degradation in Living Cells by Radioactive Pulse Chase
08:59

Analysis of Protein Folding, Transport, and Degradation in Living Cells by Radioactive Pulse Chase

Published on: February 12, 2019

Quantifying Tissue-Specific Proteostatic Decline in Caenorhabditis elegans
09:18

Quantifying Tissue-Specific Proteostatic Decline in Caenorhabditis elegans

Published on: September 7, 2021

Area of Science:

  • Biochemistry
  • Structural Biology
  • Protein Misfolding Diseases

Background:

  • Beta2 microglobulin (beta2m), the light chain of MHC-I, accumulates in kidney failure patients, causing Dialysis Related Amyloidosis (DRA).
  • Understanding beta2m aggregation is crucial for developing therapeutic strategies against DRA.

Purpose of the Study:

  • To investigate the impact of specific DE-loop mutations (W60G, W60V, D59P) on beta2m's biochemical and biophysical properties.
  • To elucidate the structural determinants governing beta2m aggregation and amyloid formation.

Main Methods:

  • Thermal unfolding analysis using Trp fluorescence and circular dichroism (CD).
  • Protein oligomerization and disulfide reduction kinetics studied by electrospray-ionization mass spectrometry (ESI-MS).
  • Characterization of a low-pH partially folded intermediate.

Main Results:

  • The W60G mutation significantly increased beta2m's conformational stability.
  • All analyzed mutations reduced the propensity of beta2m to form soluble oligomers.
  • A partially folded intermediate accumulated at low pH for all tested proteins, with distinct disulfide reduction kinetics among mutants.

Conclusions:

  • Beta2m DE-loop mutations exert long-range effects on the protein's stability and structural characteristics.
  • The DE-loop plays a critical role in determining the properties of both native and partially folded beta2m.
  • These findings provide insights into the structural basis of beta2m aggregation relevant to DRA pathogenesis.