Related Experiment Videos
Neuronal ceroid-lipofuscinosis in Borderdale sheep
R D Jolly1, D G Arthur, G W Kay
1Institute of Veterinary Animal and Biomedical Sciences, Massey University, Private Bag 11222, Palmerston North, New Zealand. R.D.Jolly@massey.ac.nz
New Zealand Veterinary Journal
|July 21, 2005
Summary
A new ovine lysosomal storage disease causes blindness and circling in Borderdale sheep due to neurodegeneration. This neuronal ceroid-lipofuscinosis is linked to mitochondrial ATP synthase subunit-c accumulation.
Area of Science:
- Veterinary Neurology
- Animal Pathology
- Biochemistry
Background:
- Neurological diseases in sheep can impact flock health and productivity.
- Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders affecting various animal species.
- Ovine ceroid-lipofuscinoses (CLs) are a subset of LSDs characterized by progressive neurodegeneration.
Purpose of the Study:
- To characterize the pathological findings of a distinct neurological disorder in Borderdale sheep.
- To classify this disease based on gross and histological lesions.
- To differentiate it from other known ovine CLs.
Main Methods:
- Gross examination of affected sheep brains.
- Histological and ultrastructural analysis of formalin-fixed tissues using light and electron microscopy.
- Specialized staining techniques and autofluorescence to identify storage material.
Main Results:
- Severe neurodegeneration of the cerebral cortex was observed.
- Lesions were consistent with a lysosomal storage disease.
- Diagnosis confirmed as neuronal ceroid-lipofuscinosis associated with accumulation of mitochondrial ATP synthase subunit-c.
Conclusions:
- The observed neurodegeneration and ultrastructural characteristics suggest a novel form of ovine CL.
- This disease is distinct from other ovine CLs accumulating mitochondrial ATP synthase subunit-c.
- An autosomal recessive inheritance pattern is suspected, with potential research implications for CLs.