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Understanding GM2 Gangliosidosis
The effects of a system out of balance
The GM2 gangliosidosis family of diseases is caused by an inherited defect in a gene called GM2A that oversees production of the GM2 activator protein. This protein is required for the normal function of an enzyme called beta-hexosaminidase whose job is to break down a type of fatty acid derivative known as gangliosides1. Without enough enzyme, these gangliosides accumulate in the brain and spinal cord, eventually leading to loss of muscle strength, vision, hearing and motor coordination, including the ability to swallow and speak.
Common pathway leads to three potentially fatal diseases
Three GM2 gangliosidosis conditions were discovered and named separately: Tay–Sachs disease, AB variant, and Sandhoff disease. People inherit a GM2 condition when both parents carry a genetic mutation that causes a deficiency of the beta-hexosaminidase A enzyme. Onset of these diseases can occur in infancy and adolescence, as well as later in life. While it may start earlier, the late-onset form of the disease is first diagnosed when people are already in their late teens or early 20s.
“It is a devastating diagnosis for people who are in their teens or early adulthood that often leads to problems with social isolation and employment even in earlier stages of the illness,” recounts Julie Kissell, Sanofi Field Science Director and a Genetic Counselor.
Currently, there is no specific treatment for GM2 gangliosidosis diseases2.
1. Mahuran DJ (1999-10-08). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta. 1455 (2–3): 105–138. doi:10.1016/S0925-4439(99)00074-5. PMID 10571007.
2. Patterson, Marc C. (2013-01-01), Dulac, Olivier; Lassonde, Maryse; Sarnat, Harvey B. (eds.), "Chapter 174 - Gangliosidoses", Handbook of Clinical Neurology, Pediatric Neurology Part III, Elsevier, 113, pp. 1707–1708, retrieved 2019-08-01
SAGLB.R&D.20.02.0143a – 02/2020