Photoreceptor Cell Death, Proliferation and Formation of Hybrid Rod/S-Cone Photoreceptors in the Degenerating STK38L Mutant Retina
2011

Photoreceptor Cell Death and Proliferation in Canine Retinal Degeneration

Sample size: 24 publication 10 minutes Evidence: high

Author Information

Author(s): Berta Ágnes I., Boesze-Battaglia Kathleen, Genini Sem, Goldstein Orly, O'Brien Paul J., Szél Ágoston, Acland Gregory M., Beltran William A., Aguirre Gustavo D.

Primary Institution: School of Veterinary Medicine, University of Pennsylvania

Hypothesis

Canine retinal degeneration caused by a mutation in STK38L leads to abnormal photoreceptor development and cell death.

Conclusion

The study found that terminally differentiated photoreceptors in the STK38L mutant retina can undergo cell division and differentiate into hybrid rod/S-cone photoreceptors.

Supporting Evidence

  • A homozygous mutation in STK38L impairs photoreceptor development and leads to cell death.
  • Photoreceptor proliferation occurs independently in different cells between 7–14 weeks of age.
  • Dividing cells in the ONL are of photoreceptor origin and do not label with macrophage or Müller cell markers.
  • Photoreceptor cells can divide and differentiate into hybrid rod/S-cone photoreceptors despite being terminally differentiated.

Takeaway

In dogs with a specific genetic mutation, some eye cells that usually don't divide can actually start to divide and change into different types of cells.

Methodology

The study involved genetic analysis, immunohistochemistry, and quantitative PCR to assess cell proliferation and gene expression in retinal tissues.

Potential Biases

Potential bias in sample selection and the interpretation of immunohistochemical results.

Limitations

The study was limited to a specific breed of dogs and may not be generalizable to other species or breeds.

Participant Demographics

The study involved dogs of various ages with a specific genetic mutation causing retinal degeneration.

Statistical Information

P-Value

1.43E-09

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0024074

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