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Related Concept Videos

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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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
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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...
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Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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%...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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TNFRSF1A coding variants in multiple sclerosis.

An Goris1, Niels Fockaert, Leentje Cosemans

  • 1Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 Bus 1022, 3000 Leuven, Belgium. an.goris@med.kuleuven.be

Journal of Neuroimmunology
|May 14, 2011
PubMed
Summary
This summary is machine-generated.

The R92Q mutation in the TNFRSF1A gene, linked to Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS), is a risk factor for multiple sclerosis (MS). This finding was replicated in a study of MS patients and controls.

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Area of Science:

  • Genetics
  • Neuroimmunology
  • Autoinflammatory Diseases

Background:

  • Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disease.
  • Some TRAPS patients exhibit demyelinating diseases.
  • The TNFRSF1A R92Q mutation, a mild TRAPS variant, is hypothesized to increase multiple sclerosis (MS) risk.

Purpose of the Study:

  • To investigate the association between the TNFRSF1A R92Q mutation and multiple sclerosis (MS) risk.
  • To determine if this association is independent of other known risk variants in the TNFRSF1A gene.

Main Methods:

  • Case-control study design.
  • Genotyping of 967 MS patients and 1022 controls for the TNFRSF1A R92Q mutation.
  • Statistical analysis including odds ratio (OR) and confidence intervals (CI).

Main Results:

  • Replication of the association between the TNFRSF1A R92Q mutation and MS risk (P=5×10⁻⁴, OR=2.26).
  • The mutation was present in 3% of MS patients versus 1% of controls.
  • The observed association was independent of a previously established common risk variant in the same gene.
  • No other non-synonymous variants in TNFRSF1A within the studied allele frequency range influenced MS risk.

Conclusions:

  • The TNFRSF1A R92Q mutation is a risk factor for developing multiple sclerosis.
  • This genetic risk appears independent of other known common variants in the TNFRSF1A gene.
  • Further research into the role of TNFRSF1A variants in MS pathogenesis is warranted.