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GM3 Synthase Deficiency

GM3 Synthase Deficiency is a rare fatal autosomal recessive condition that occurs mostly in Old Order Amish communities. Patients develop intellectual disability, neurodevelopmental deterioration, motor impairments, seizures, and deafness among other symptoms. The life expectancy for patients with this disease is unknown. GM3 synthase deficiency is caused by mutations in the ST3GAL5 gene that functions to produce the ganglioside GM3.

A Sheep Model of GM3 Synthase Deficiency

Mice with GM3 Synthase Deficiency do not develop the the same symtoms as human patients with this disease, except for deafness. Therefore, our lab has developed a sheep model of this disease using CRISPR-Cas9 to create multiple mutations in the ST3GAL5 gene. So far, we have found that these sheep have normal hearing but exhibit mild neurological features including proprioceptive deficits, ataxia, and urinary incontinence. This sheep model may more accurately represent the human GM3 synthase deficiency, thereby facilitating efficacy testing in a large animal model and brings a new light to the preclinical development of a treatment for this devastating disease.

To contact us about GM3 synthase deficiency, please email Dr. Hector Ribeiro Benatti at Hector.Benatti@umassmed.edu