Studies on the molecular mechanism of GM(2) gangliosidosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 103-106, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-248484
ABSTRACT
<p><b>OBJECTIVE</b>To study the molecular mechanism of GM(2) gangliosidosis.</p><p><b>METHODS</b>The skin fibroblasts from 4 patients with GM(2) gangliosidosis were subjected to culture. Enzyme activities assay, Western blot and immunocytochemical analysis were performed using the cultured fibroblasts.</p><p><b>RESULTS</b>The hexosaminidase (Hex) activities of 4 patients with GM(2) gangliosidosis were significantly decreased. The activities were 12% 3% 15% and 6% of control values, respectively. Western blot analysis indicated that the amount of Hex mature alpha- and beta- subunits (alpha m, beta m) was decreased in cells from patients 2 and 3, but only decreased alpha m was found in patient 1 and both alpha m and beta m were normal in cells from patient 4. Immunocytochemical analysis revealed the accumulated GM(2) ganglioside in cells from patients 1-4.</p><p><b>CONCLUSION</b>The pathogenesis of GM(2) gangliosidosis was associated with deficiency of Hex alpha m and beta m and GM(2) activator caused by HEXA, HEXB and GM(2)A gene mutations.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Beta-N-Acetylhexosaminidases
/
Cells, Cultured
/
Blotting, Western
/
Gangliosidoses, GM2
/
Protein Subunits
/
Hexosaminidase A
/
Hexosaminidase B
/
Metabolism
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
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