The clinical spectrum of
hexosaminidase deficiency disease.
Although an involvement of [beta]-Hex-Sl in plant cell wall or fruit ripening has been reported recently [10], depending on the properties and behaviour of
hexosaminidase homologues we could not exclude the possibilities of their involvements in the other physiological processes such as pathogenic resistance and abiotic stress tolerance in plants.
In addition, differentially expressed genes involved mainly in molecular functions were mainly related to protein binding, Hsa04620: toll-like rece 8 0.45% RAC1, TRAF3, MAPK3, IFNAR1,0.00002 signaling pathway TICAM1, IL6, MAPK11, and IFNA1 nucleic acid binding, structure-specific DNA binding, RNA binding, and
hexosaminidase activity.
NO PREVENTING THIS UNTREATABLE AND RARE DISEASE* Tay-Sachs is caused by a deficiency of a protein called
hexosaminidase A.
Plasma
hexosaminidase levels were significantly decreased.
TABLE 3 Genetic disorders: Who to screen, tests to use (34) RECOMMENDED ETHNIC ORIGIN * DISORDER TEST Ashkenazi Jews Tay-Sachs disease; DNA panel, Canavan disease
hexosaminidase A African American Sickle cell trait; Hemoglobin beta-thalassemia electrophoresis, MCV <70 fL French Canadian, Tay-Sachs disease
Hexosaminidase A Cajun Mediterranean Alpha-,([dagger]) Hemoglobin beta-thalassemia electrophoresis, MCV <70 fL Indian, Middle Sickle cell trait; Hemoglobin Eastern alpha-, ([dagger]) electrophoresis, beta-thalassemia MCV <70 fL Caucasian Cystic fibrosis DNA panel Southeast Asian Alpha-, beta- Hemoglobin (Thai, Laotian, thalassemia electrophoresis, Cambodian) MCV <70 fL MCV, mean corpuscular volume.
Sandhoff disease springs from the lack of the enzyme
hexosaminidase (hex), which dears excess lipids from the brain.
Tay-Sachs disease is characterized by absence of
hexosaminidase A, an enzyme that breaks down GM2-ganglioside.
The major defect in Ashkenazi Jews with Tay Sachs Disease is an insertion in the gene for the alpha-chain of beta
hexosaminidase. J Biol Chem.
The assay cocktail further contained ISs (7.5-15 [micro]mol/L) and 0.1 mmol/L NAG-thiazoline to inhibit endogenous
hexosaminidase A that would otherwise catalyze hydrolysis of the GALNS and ARSP products (8).