May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Using Peripheral Blood Leukocytes to Detect PRPF31 Haploinsufficiency
C. J. Spellicy; S. J. Bowne; L. S. Sullivan; D. Hughbanks-Wheaton; D. G. Birch; J. R. Heckenlively; S. P. Daiger
Author Affiliations & Notes
  • C. J. Spellicy
    Human Genetics Center, School of Public Health, The Univ. of Texas Health Science Center, Houston, Texas
  • S. J. Bowne
    Human Genetics Center, School of Public Health, The Univ. of Texas Health Science Center, Houston, Texas
  • L. S. Sullivan
    Human Genetics Center, School of Public Health, The Univ. of Texas Health Science Center, Houston, Texas
  • D. Hughbanks-Wheaton
    Retina Foundation of the Southwest, Dallas, Texas
  • D. G. Birch
    Retina Foundation of the Southwest, Dallas, Texas
  • J. R. Heckenlively
    Kellogg Eye Center, Univ. of Michigan, Ann Arbor, Michigan
  • S. P. Daiger
    Human Genetics Center, School of Public Health, The Univ. of Texas Health Science Center, Houston, Texas
  • Footnotes
    Commercial Relationships  C.J. Spellicy, None; S.J. Bowne, None; L.S. Sullivan, None; D. Hughbanks-Wheaton, None; D.G. Birch, None; J.R. Heckenlively, None; S.P. Daiger, None.
  • Footnotes
    Support  Foundation Fighting Blindness, The Gustavus and Louise Pfeiffer Research Foundation, The William Stamps Farish Foundation, The Schissler Foundation, NIH EY007142, NIH EY005235, NEI EY007024
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1302. doi:
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      C. J. Spellicy, S. J. Bowne, L. S. Sullivan, D. Hughbanks-Wheaton, D. G. Birch, J. R. Heckenlively, S. P. Daiger; Using Peripheral Blood Leukocytes to Detect PRPF31 Haploinsufficiency. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1302.

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Abstract

Purpose: : To test a novel method of screening for PRPF31 mutations in patients with retinitis pigmentosa using peripheral blood leukocytes as a model system. Mutations in pre-mRNA splicing factor 31 (PRPF31) cause autosomal dominant retinitis pigmentosa (adRP). PRPF31 accounts for 8% adRP. The disease mechanism by which PRPF31 mutations cause disease is thought to be haploinsufficiency.

Methods: : Blood samples were collected from unaffected control individuals and from patients with known PRPF31 mutations. Leukocytes were isolated using the LeukoLOCKTM system from Ambion. RNA was processed from the leukocyte population. Additional blood samples were sent to the Coriell Institute for Medical Research where they were immortalized with Epstein Barr virus. PRPF31 levels were measured using real time quantitative PCR (RT-qPCR). Comparisons in PRPF31 mRNA levels were made between unaffected and affected individuals in both the lymphoblast and leukocyte mRNAs.

Results: : Initial data shows that PRPF31 mRNA levels can be measured in both leukocytes and lymphoblast cell lines using RT-qPCR. Experiments are underway to confirm that reduced levels of PRPF31 mRNA can be detected in patients carrying known PRPF31 mutations as compared to control individuals.

Conclusions: : Lymphoblast cell lines from affected individuals with PRPF31 mutations have roughly half the amount of PRPF31 mRNA as control individuals. If experiments using leukocytes validate the ability to detect half levels of PRPF31 mRNA in patients with mutations, measuring PRPF31 mRNA levels in leukocytes may represent a novel and efficient way of identifying PRPF31 as a target for mutation screening. Furthermore, adRP patients with low levels of PRPF31 mRNA in leukocytes, but without detectable mutations in the PRPF31 coding sequence, become candidates for additional analysis to identify mutations in promoter and/or regulatory regions.

Keywords: gene/expression • retinal degenerations: hereditary • mutations 
© 2008, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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