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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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...
Adaptive Mechanisms in Cancer Cells02:53

Adaptive Mechanisms in Cancer Cells

Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
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

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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A cognitive chameleon: lessons from a novel MAPT mutation case.

Yuying Liang1, Elizabeth Gordon, Jonathan Rohrer

  • 1a Dementia Research Centre, Department of Neurodegenerative Diseases , UCL Institute of Neurology , London WC1N 3BG , UK.

Neurocase
|September 4, 2013
PubMed
Summary

A novel MAPT mutation (Q351R) caused frontotemporal dementia with an Alzheimer's-like presentation. This suggests molecular pathology dictates the neural network affected in MAPT mutations.

Keywords:
Autobiographical memoryBrain networksEpisodic memoryFamilial Alzheimer’s diseaseFrontotemporal dementiaMAPT mutationsSemantic memory

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Frontotemporal dementia (FTD) is a neurodegenerative disorder.
  • Mutations in the MAPT gene are a known cause of FTD.
  • Atypical presentations of FTD can mimic other neurodegenerative diseases like Alzheimer's disease.

Purpose of the Study:

  • To report a novel MAPT mutation (Q351R) causing FTD.
  • To describe the clinical, neuropsychological, and imaging findings of this case.
  • To explore the relationship between molecular pathology and affected neural networks in FTD.

Main Methods:

  • Case report.
  • Longitudinal clinical assessments.
  • Neuropsychological testing.
  • Brain imaging (MRI/PET).

Main Results:

  • A novel MAPT mutation (Q351R) was identified.
  • The patient exhibited a prolonged amnestic presentation resembling familial Alzheimer's disease.
  • Neuroimaging revealed predominant bilateral anterior medial temporal lobe involvement.
  • Anomia was a significant diagnostic feature in the context of atypical amnesia.

Conclusions:

  • This case highlights that the neural network affected in MAPT mutations is largely determined by the specific molecular pathology.
  • The findings underscore the importance of considering FTD in patients with atypical memory impairments.
  • Understanding memory system deficits is crucial for autobiographical memory in FTD.