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Human chorionic beta-mannosidase: comparison with beta-mannosidase from human cultured fibroblasts
N A Petushkova1, T S Ivleva, Vozniy YaM
1Institute of Biological and Medical Chemistry, Russian Academy of Medical Sciences, Moscow.
Prenatal Diagnosis
|October 1, 1992
Summary
Chorionic villi beta-mannosidase activity can be measured for early prenatal diagnosis. This enzyme assay in chorionic villi (CV) is similar to that in fibroblasts.
Area of Science:
- Biochemistry
- Medical Genetics
- Prenatal Diagnostics
Background:
- Beta-mannosidase deficiency is a rare genetic disorder.
- Prenatal diagnosis of lysosomal storage diseases is crucial for genetic counseling.
Purpose of the Study:
- To investigate the assay conditions for beta-mannosidase activity in human chorionic villi (CV).
- To compare the biochemical properties of beta-mannosidase from CV with that from cultured fibroblasts.
- To evaluate the potential for using CV for early prenatal determination of beta-mannosidase activity.
Main Methods:
- Assay of beta-mannosidase activity using the fluorogenic substrate 4-methylumbelliferyl-beta-D-mannopyranoside.
- Biochemical characterization including pH optimum and Km value determination.
- Comparative analysis between enzyme from chorionic villi and cultured fibroblasts.
Main Results:
- Optimal assay conditions for beta-mannosidase in human CV were established.
- Beta-mannosidase from CV exhibited high activity, similar to the enzyme from skin fibroblasts.
- Both enzymes demonstrated comparable pH optima (4.2-4.7) and Km values.
Conclusions:
- Chorionic villi (CV) beta-mannosidase shares biochemical properties with the fibroblast enzyme.
- Chorion biopsy specimens are suitable for early prenatal determination of beta-mannosidase activity.
- This assay offers a potential method for prenatal diagnosis of beta-mannosidase deficiency.
