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Related Experiment Video

Updated: Jun 7, 2026

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

Published on: January 19, 2014

Gaucher disease in sheep.

Litsa Karageorgos¹, Malcolm J Lancaster, Judith S Nimmo

¹Lysosomal Diseases Research Unit, A Research Centre of SA Pathology, Women's and Children's Hospital, North Adelaide, SA, 5006, Australia. litsa.karageorgos@adelaide.edu.au

Journal of Inherited Metabolic Disease

|October 28, 2010

Summary

This summary is machine-generated.

Gaucher disease, a lysosomal storage disorder, was found in sheep with neurological and skin issues. This discovery offers a new large animal model for studying and treating this condition.

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Area of Science:

Veterinary Genetics
Lysosomal Storage Disorders
Animal Models of Human Disease

Background:

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the beta-glucocerebrosidase gene.
It has been recently identified in a Southdown sheep flock in Victoria, Australia.
Clinical signs in affected lambs include neuropathy, thickened leathery skin, and ichthyosis, with inability to stand from birth.

Purpose of the Study:

To report the identification and characterization of Gaucher disease in sheep.
To establish a large animal model for studying Gaucher disease pathology and therapeutic strategies.
To investigate the genetic basis of Gaucher disease in the affected sheep population.

Main Methods:

Clinical observation and examination of affected lambs.
Biochemical assays to measure glucocerebrosidase activity.
Mutational analysis of the beta-glucocerebrosidase gene.

Main Results:

Affected lambs exhibited deficient glucocerebrosidase activity.
Homozygosity for missense mutations c.1142G>A (p.C381Y) and c.1400C>T (p.P467L) in the beta-glucocerebrosidase gene was identified.
Four additional silent mutations were detected in the affected sheep.

Conclusions:

The identification of an acute neuronopathic form of Gaucher disease in sheep provides a valuable large animal model.
This model will facilitate research into disease pathology and the evaluation of potential therapies for Gaucher disease.
The genetic findings contribute to understanding the molecular basis of Gaucher disease in this ovine population.