[Studies on the molecular mechanism of GM(2) gangliosidosis].

Abstract

OBJECTIVE:

To study the molecular mechanism of GM(2) gangliosidosis.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

• Authors: Lin Hou, Ohno Kousaku
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 20 Issue 2 Pg. 103-6 (Apr 2003) ISSN: 1003-9406 [Print] China
• PMID: 12673576 (Publication Type: English Abstract, Journal Article)

Chemical References

• Protein Subunits
• Hexosaminidase A
• Hexosaminidase B
• beta-N-Acetylhexosaminidases

Topics

• Adult
• Blotting, Western
• Cells, Cultured
• Child, Preschool
• Female
• Gangliosidoses, GM2 (enzymology, pathology)
• Hexosaminidase A
• Hexosaminidase B
• Humans
• Infant
• Male
• Protein Subunits (metabolism)
• beta-N-Acetylhexosaminidases (metabolism)