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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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
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Viral Mutations00:36

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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,...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Novel PLVAP Mutation in Protein Losing Enteropathy.

Orhan Gorukmez1, Ozlem Gorukmez1, Kaan Demiroren1

  • 1Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.

Fetal and Pediatric Pathology
|June 20, 2019
PubMed
Summary

Genetic mutations in the PLVAP gene cause protein-losing enteropathy (PLE) and Diarrhea 10 (DIAR10). A novel frameshift mutation in PLVAP was identified in a fatal infant PLE case.

Keywords:
Novel mutationPLEPLVAP

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Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Protein-losing enteropathy (PLE) is a rare disorder characterized by excessive protein loss in the gastrointestinal tract.
  • Diarrhea 10 (DIAR10) is a severe form of PLE linked to genetic mutations.
  • Mutations in the Plasmalemma Vesicle Associated Protein (PLVAP) gene have recently been identified as a cause of DIAR10.

Observation:

  • A case of fatal PLE in an infant is presented.
  • Whole Exome Sequencing (WES) revealed a novel homozygous frameshift mutation (c.339dupT; p.Ala114Cysfs*9) in the PLVAP gene.
  • This mutation resulted in a premature stop codon in exon 1 of PLVAP.

Findings:

  • The identified PLVAP mutation (c.339dupT; p.Ala114Cysfs*9) is novel and has not been previously reported.
  • This represents the fifth reported case of a PLVAP mutation associated with PLE and DIAR10.
  • The findings confirm PLVAP as a critical gene in intestinal barrier function and PLE pathogenesis.

Implications:

  • This study expands the spectrum of known PLVAP mutations causing DIAR10.
  • Understanding the genetic basis of PLE can aid in diagnosis and genetic counseling.
  • Further research into PLVAP function may reveal therapeutic targets for intestinal barrier disorders.