Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Panthera leo) with Polymyopathy

Desiré L. Dalton, Chantelle Pretorius, Lin Mari de Klerk-Lorist, Bjorn Reininghaus, Peter Buss, Emily P. Mitchell

Research output: Contribution to journalArticlepeer-review


Polyphasic skeletal muscle degeneration, necrosis and mineralization of skeletal muscle was diagnosed in eight juvenile free-ranging lions (Panthera leo), from five different litters in the Greater Kruger National Park area that were unable to walk properly. A detailed investigation was not possible in free-ranging lions, so the cause could not be determined. The cases resembled hypokalemic polymyopathy in domestic cats with muscle weakness. A candidate-gene approach previously identified a nonsense mutation in the gene coding for the enzyme lysine-deficient 4 protein kinase (WNK4) associated with the disease in Burmese and Tonkinese cats. In this study, we sequenced all 19 exons of the gene in one case, and two control samples, to identify possible mutations that may be associated with polymyopathy in free-ranging lions. Here, no mutations were detected in any of the exons sequenced. Our findings indicate that the WNK4 gene is not a major contributor to the condition in these lions. Further studies into the pathogenesis of this condition are needed to inform conservation policies for this vulnerable, iconic African species.

Original languageEnglish
Article number389
Issue number3
Publication statusPublished - 8 Feb 2022

Bibliographical note

Funding Information:
The clinical and pathological data from Cubs 1?5 were obtained from the SANBI Diseases Database. The staff of the pathology sections at SANBI and the FVS, University of Pretoria; as well as of the Skukuza State Veterinary Office & Laboratory provided excellent technical assistance.

Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.


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