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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
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral Mutations

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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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Updated: Jan 29, 2026

Measuring Microbial Mutation Rates with the Fluctuation Assay
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A toddler with a novel LEPR mutation.

Coşkun Armağan1, Ceren Yılmaz2, Altuğ Koç3

  • 1Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.

Hormones (Athens, Greece)
|February 20, 2019
PubMed
Summary
This summary is machine-generated.

Genetic factors can cause severe early-onset obesity. A novel mutation in the leptin receptor (LEPR) gene was identified in a young patient with this condition.

Keywords:
Early-onset obesityLeptin ReceptorMonogenic obesityMutationSetmelanotide

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Area of Science:

  • Genetics and Endocrinology
  • Molecular Biology

Background:

  • Obesity has diverse causes including environmental, genetic, and endocrine factors.
  • Severe early-onset obesity with specific syndromic features often indicates a genetic basis.
  • The leptin-melanocortin pathway is crucial for regulating food intake and energy balance.

Observation:

  • A 3-year-old male presented with severe early-onset obesity.
  • The patient exhibited abnormal feeding behaviors and other developmental abnormalities.
  • Genetic analysis was performed to investigate the underlying cause.

Findings:

  • A novel, homozygous, pathogenic variant (c.1603+2T>C) was identified in the leptin receptor (LEPR) gene.
  • Mutations in LEPR are known to cause severe obesity by disrupting the leptin signaling pathway.
  • This specific variant provides new insight into LEPR gene function in obesity pathogenesis.

Implications:

  • This finding reinforces the role of the leptin-melanocortin pathway in severe early-onset obesity.
  • Genetic testing for LEPR mutations should be considered in patients with severe obesity and related symptoms.
  • Understanding novel variants like this can lead to improved diagnostics and potential therapeutic targets for genetic obesity.