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- Title
Canine elliptocytosis due to a mutant β-spectrin.
- Authors
Di Terlizzi, Roberta; Gallagher, Patrick G.; Mohandas, Narla; Steiner, Laurie A.; Dolce, Karen S.; Xinhua Guo; Wilkerson, Melinda J.; Stockham, Steven L.
- Abstract
A 5-year-old, spayed female, mixed-breed dog with persistent elliptocytosis was evaluated at the Veterinary Medical Teaching Hospital at Kansas State University. The elliptocytosis was asymptomatic and was detected during the evaluation of lameness. When subjected to shear stress in an ektacytometer, the dog's erythrocytes had reduced cellular deformability and erythrocyte membranes had decreased mechanical stability. Analysis of erythrocyte membrane spectrin by nondenaturing gel electrophoresis revealed an increased amount of spectrin dimers, indicating a defect in spectrin self-association. DNA analysis detected a β-spectrin mutation in codon 2110 in which threonine was replaced by methionine. This mutation likely altered the molecular structure of the erythrocyte membrane, leading to impaired spectrin self-association and elliptocyte formation.
- Subjects
MUTTS (Dogs); SPECTRIN; ERYTHROCYTE membranes; GEL electrophoresis; MOLECULAR structure; METHIONINE
- Publication
Veterinary Clinical Pathology, 2009, Vol 38, Issue 1, p52
- ISSN
0275-6382
- Publication type
Article
- DOI
10.1111/j.1939-165X.2008.00092.x