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Neuronal ceroid lipofuscinosis in Merino sheep
Author(s) -
COOK RW,
JOLLY RD,
PALMER DN,
TAMMEN I,
BROOM MF,
McKIN R
Publication year - 2002
Publication title -
australian veterinary journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.382
H-Index - 59
eISSN - 1751-0813
pISSN - 0005-0423
DOI - 10.1111/j.1751-0813.2002.tb10847.x
Subject(s) - neuronal ceroid lipofuscinosis , batten disease , biology , astrocytosis , flock , atrophy , pathology , disease gene identification , gene , genetics , endocrinology , central nervous system , medicine , mutation , paleontology , exome sequencing
Objective To characterise neuronal ceroid lipofuscinosis (NCL) in Merino sheep. Design A prospective clinical, pathological, biochemical and genetic study. Procedure NCL cases were studied from a medium‐wool Merino flock, the stud of origin of its replacement rams, and an experimental flock established at the University of Sydney. Results Behavioural changes and visual impairment were first detected at 7 to 12 months of age and progressed, with associated motor disturbances and at later stages seizures, to premature death by 27 months of age. At necropsy there was severe cerebrocortical atrophy associated with neuronal loss, astrocytosis and the presence in neurons of eosinophilic intra‐cytoplasmic storage bodies with the characteristics of a lipopigment. In the retina there was progressive loss of photoreceptor cells. Storage bodies isolated from fresh brain, liver and pancreas formed electron‐dense aggregates and coarse multilamellar and fine fingerprint profiles ultrastruc‐turally, and consisted mainly of the hydrophobic protein, subunit c of mitochondrial ATP synthase. A homozygosity mapping approach localised the gene causing the disease in Merino sheep to the chromosomal region (OAR7q13–15) associated with NCL in South Hampshire sheep. Conclusion NCL in Merino sheep is a subunit c‐storing disease, clinically and pathologically similar to NCL in South Hampshire sheep. We propose that the disease in both breeds represents mutation at the same gene locus in chromosomal region OAR7q13–15.