Dedicated to the
Health and Welfare of All Cats
A A A
Font Size
hero-education

Cat Health News Blog

A resource for dedicated cat supporters

Since its start in 2007, Cat Health News has featured the latest information on feline health. The bi-weekly blog is a mix of the most current published research from Winn-funded research and other sources. There are over 570 blog items and more than 1,000 subscribers through the RSS feed.


icon-blogWinn-funded research is specifically noted by the small green cat.

  • Genetics and osteochondrodysplasia in Scottish fold cats

    May 27, 2016

    icon-blogGandolfi B, Alamri S, Darby WG, et al.  A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.  Osteoarthritis Cartilage. 2016 Apr 6. pii: S1063-4584(16)30013-9.
    Partially Funded by Winn Feline Foundation through Cat Health Network (D12FE-514)

    120px-Lilac_Scottish_FoldScottish fold cats, named for their unique ear shape, have a dominantly inherited osteochondrodysplasia involving malformation in the distal forelimbs, distal hindlimbs and tail, and progressive joint destruction. The aim of this study was to identify the gene and the underlying variant responsible for the osteochondrodysplasia.

    Researchers from University of Sydney Veterinary Science Department, University of Missouri College of Veterinary Medicine and other collaborators used a feline DNA array and a case control genome–wide association analysis to genotype DNA samples from 44 Scottish fold and 54 control cats.  A mutation in the gene encoding a calcium permeable ion channel, transient receptor potential cation channel, subfamily V, member 4 (TRPV4) was found to be responsible for the dominantly inherited folded ears and osteochondrodysplasia in Scottish fold cats.  A T to G nucleotide mutation leads to a valine to phenylalanine amino acid substitution in mutant TRPV4.  Researchers further performed a functional analysis of HEK293 cell line expressing either the wild-type or mutant TRPV4.   Functional consequence of mutant TRPV4 relative to the wild-type TRPV4 is decreased expression of the calcium ion channel at the cell surface.  Mutant TRPV4 channels also had a higher basal activity and an increased response to hypotonic conditions.  TRPV4 is expressed in a range of tissues, including chondrocytes, osteoblasts and osteoclasts, where its correct activity is crucial for cell differentiation and tissue homeostasis; thus, mutant TRPV4 likely alters transduction of mechanical signals and influences chondrocyte intracellular responses and ultimately, the osteochondrodysplasia presentation. (GO) 

    See also:
    Takanosu, M, Takanosu T, et al. Complete dominant osteochoendrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract. 2008 Apr; 49(4): 197-199.

    Malik R, Allan GS, et al. Osteochodrodysplasia in Scottish Fold cats. Aust Vet J. 1999 Feb;77(2):85-92.

     

     



    Scottish Fold cats osteochondrodysplasia DNA variant

    More on cat health:

    Winn Feline Foundation Library
    Find us on Facebook
    Follow us on Twitter
    Pin with us on Pinterest
    Join us on Google+

 

Archives

2016
2015
2014
2013
2012
2011
2010
2009
2008
2007