GM1

Young Dr. Larry Holler and one of our first homozygous recessive (affected with GM1 gangliosidosis) lambs, named Rosie.  These affected lambs accumulate large quantities (multiple grams) of GM1.

Ovine GM1 gangliosidosis is an autosomal recessive, lysosomal storage disease in sheep associated with a profound deficiency of the lysosomal enzyme acid beta-galatosidase. Due to this missing enzyme GM1 ganglioside, asialo GM1 ganglioside and galactose containing glycoproteins and long chain galactose containing oligosaccharides are stored instead of degraded as they would be in normal lambs.    Affected animals contain markedly elevated levels of GM1 ganglioside and asialo GM1 in the brain, spinal cord, and lessor amounts in other tissues in the body.  Since the disease is an autosomal recessive inheritance, 1/4 lambs from carrier x carrier mating will be born with the disease.  With this mating 1/4  lambs will be normal, and the remainder (1/2) will carry but not express the trait.  The  GM1 gangliosidosis lambs (those homogeneous for the trait) appear normal at birth and grow relatively normally until 60 days of age.  As the GM1 accumulates these lambs will start to display incoordination by 90-120 days of age, and the neurologic function of the lamb will continue to deteriorate until the central nervous system (CNS) tissues are collected at slaughter at 4-5 months of age.  These affected lambs are housed separately from normal or carrier (heterogenous) flock mates and receive special attention and extra care.

Currently CNS tissues are collected and sent to Avanti Polar Lipids for purification of GM1 and sold for research. http://avantilipids.com/index.php?option=com_content&view=article&id=442&Itemid=271&catnumber=860065