AB Variant Tay-Sachs Disease

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

Also Known As:

Tay-Sachs Disease, AB Variant; AB Variant GM2-Gangliosidosis; AB Variant Gangliosidosis GM2; Activator Deficiency GM2 Gangliosidosis; Activator-Deficient Tay-Sachs Disease; Deficiency Disease, GM2 Protein Activator; GM2 Activator Deficiency; GM2 Activator Deficiency Disease; GM2 Gangliosidosis, Type AB; GM2-Gangliosidosis, AB Variant; Hexosaminidase Activator Deficiency; Hexosaminidase Activator Protein Deficiency Disease; AB Variant GM2 Gangliosidosis; AB Variant GM2-Gangliosidoses; Activator Deficiencies, GM2; Activator Deficiencies, Hexosaminidase; Activator Deficiency, GM2; Activator Deficiency, Hexosaminidase; Activator Deficient Tay Sachs Disease; Activator-Deficient Tay-Sachs Diseases; Deficiencies, GM2 Activator; Deficiencies, Hexosaminidase Activator; Deficiency, GM2 Activator; Deficiency, Hexosaminidase Activator; Disease, Activator-Deficient Tay-Sachs; Diseases, Activator-Deficient Tay-Sachs; GM2 Activator Deficiencies; GM2 Gangliosidosis, AB Variant; GM2-Gangliosidoses, AB Variant; Hexosaminidase Activator Deficiencies; Tay Sachs Disease, AB Variant; Tay-Sachs Disease, Activator-Deficient; Tay-Sachs Diseases, Activator-Deficient; Variant GM2-Gangliosidoses, AB; Variant GM2-Gangliosidosis, AB; GM2 Protein Activator Deficiency Disease; Gangliosidosis GM2, AB Variant; Gangliosidosis GM2, Type AB

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	GM2 Gangliosidoses (GM2 Gangliosidosis)
2.	Tay-Sachs Disease
3.	Sandhoff Disease (Sandhoff's Disease)
4.	Variant B1 Tay-Sachs Disease

Experts

1.	Brunel-Guitton, Catherine: 1 article (06/2017)
2.	Gauvin, France: 1 article (06/2017)
3.	Lortie, Anne: 1 article (06/2017)
4.	Martins, Carla: 1 article (06/2017)
5.	Mitchell, Grant A: 1 article (06/2017)
6.	Morales, Carlos R: 1 article (06/2017)
7.	Pshezhetsky, Alexey V: 1 article (06/2017)
8.	Brackmann, Florian: 1 article (04/2017)
9.	Böhringer, Judith: 1 article (04/2017)
10.	Kehrer, Christiane: 1 article (04/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to AB Variant Tay-Sachs Disease:

1.	G(M2) Activator ProteinIBA 12/01/1994 - "Mutations in the human GM2 activator protein gene (GM2A) result in the GM2 gangliosidosis AB variant, a severe neurological disease. " 04/01/2017 - "GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. " 01/01/2016 - "GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A. " 12/01/1995 - "Three forms of this disease, Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency, have been recognized according to whether the defect involves the alpha subunit, beta subunit, or GM2 activator protein, respectively. " 05/24/2023 - "AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for the breakdown of GM2 in a key catabolic pathway required for CNS lipid homeostasis. "
2.	Proteins (Proteins, Gene)FDA Link 02/01/1999 - "Recombinant GM2-activator protein stimulates in vivo degradation of GA2 in GM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay." 06/01/2017 - "GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). " 11/01/2016 - "Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant due to truncated protein caused by nonsense mutation c.472 G > T (p.E158X) in GM2Agene. "
3.	G(M2) Ganglioside (Ganglioside GM2)IBA 05/24/2023 - "Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis." 06/01/2017 - "GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). "
4.	Hexosaminidase A (Hex A)IBA 01/25/1991 - "After incorporation of [3H]GD1a-GalNAc into cultured skin fibroblasts from healthy subjects and from patients with different variants of GM2 gangliosidosis, its degradation was found to be strongly attenuated in mutant cells with Hex A deficiencies such as variant B (Tay-Sachs disease), variant B1 and variant 0 (Sandhoff disease), while in cells with variant AB (GM2 activator deficiency), its catabolism was blocked only at the level of GM2. "
5.	Nonsense Codon (Nonsense Mutation)IBA 11/01/2016 - "Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant due to truncated protein caused by nonsense mutation c.472 G > T (p.E158X) in GM2Agene. "
6.	Complementary DNA (cDNA)IBA 07/17/1989 - "Availability of the cDNA clone should facilitate investigation into function of the GM2 activator protein and also into genetic abnormalities underlying GM2 gangliosidosis AB variant."
7.	LipidsIBA 05/24/2023 - "AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for the breakdown of GM2 in a key catabolic pathway required for CNS lipid homeostasis. "
8.	G(M1) GangliosideIBA 11/17/2000 - "These findings offer a possible explanation for the observation that no storage of the ganglioside GM1 has been observed in patients with either isolated prosaposin or isolated GM2 activator deficiency. "