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PSMD3 gene mutations cause pathological myopia.

Jing Chen1, Ping Lian1, Xiujuan Zhao1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, Guangdong, China.

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|March 22, 2023
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Summary
This summary is machine-generated.

Researchers identified a novel gene variant, PSMD3, linked to pathological myopia (PM) in a Chinese family. This discovery sheds light on the genetic mechanisms underlying PM development and axial length elongation.

Keywords:
Eye DiseasesGeneticsPoint Mutation

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Pathological myopia (PM) has known genetic influences, but its precise genetic underpinnings remain largely unknown.
  • Understanding the genetic basis of PM is crucial for developing targeted therapies and interventions.

Purpose of the Study:

  • To identify candidate gene mutations responsible for pathological myopia (PM) within a Chinese family.
  • To investigate the potential molecular mechanisms contributing to PM pathogenesis.

Main Methods:

  • Exome and Sanger sequencing were employed in a Chinese family and 179 sporadic PM cases.
  • Gene expression was analyzed using RT-quantitative real-time PCR (RT-qPCR) and immunofluorescence.
  • Apoptosis rates and myopia-related parameters in mutant mice were assessed.

Main Results:

  • A novel PSMD3 variant (c.689T>C; p.F230S) was identified in a PM family, alongside a rare mutation (c.1015C>A; p.L339M) in sporadic cases.
  • PSMD3 expression was confirmed in human eye tissue; mutations decreased its mRNA and protein levels, inducing retinal pigment epithelial cell apoptosis.
  • Mutant mice exhibited significantly increased axial length (AL) compared to wild-type controls.

Conclusions:

  • The study identified PSMD3 as a potential pathogenic gene associated with pathological myopia (PM) in a Chinese family.
  • PSMD3 mutations may contribute to axial length elongation and the overall development of PM.