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Related Experiment Videos

Human caspase 12 has acquired deleterious mutations.

Heinz Fischer1, Ulrich Koenig, Leopold Eckhart

  • 1Department of Dermatology, University of Vienna Medical School, Vienna, Austria.

Biochemical and Biophysical Research Communications
|June 11, 2002
PubMed
Summary

Functional caspase 12 is absent in humans due to mutations, preventing its role in Alzheimer's disease pathogenesis. This finding contrasts with rodent studies suggesting caspase 12 involvement in endoplasmic reticulum stress responses.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Caspase 12, identified in rodents, mediates apoptosis following endoplasmic reticulum stress.
  • Murine studies suggested a role for caspase 12 in Alzheimer's disease pathogenesis.
  • Investigating the human ortholog is crucial for understanding its potential disease relevance.

Purpose of the Study:

  • To investigate the presence and function of human caspase 12.
  • To determine if human caspase 12 plays a role in Alzheimer's disease.

Main Methods:

  • Human caspase 12 gene localization via genome sequence alignment.
  • Analysis of alternatively spliced transcripts using RT-PCR and molecular cloning.
  • Identification of mutations affecting protein expression and catalytic activity.

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Main Results:

  • The human caspase 12 gene is located on chromosome 11q22.3.
  • Nine alternatively spliced transcripts are expressed, but all contain mutations.
  • Frame shift, premature stop codons, and SHG box mutations prevent functional protein production.

Conclusions:

  • Functional caspase 12 is absent in humans.
  • Human caspase 12 cannot play a role in Alzheimer's disease pathogenesis.
  • Rodent findings on caspase 12 are not applicable to human Alzheimer's disease.