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Diagnosing sphingolipidoses in murine and human embryos
1Department of Obstetrics and Gynaecology, Hadassah University Hospital, Jerusalem, Israel.
Human Reproduction (Oxford, England)
|February 1, 1993
Summary
This study shows lipid storage diseases can be diagnosed in single human embryos. This early diagnosis of genetic disorders like Tay-Sachs disease may prevent the need for prenatal testing and fetal abortion.
Area of Science:
- Biochemistry
- Genetics
- Embryology
Background:
- Lipid storage diseases are a group of inherited metabolic disorders.
- Current prenatal diagnosis methods can be invasive and may lead to difficult decisions.
Purpose of the Study:
- To develop a method for diagnosing lipid storage diseases in human embryos at the preimplantation stage.
- To explore the potential for single-cell diagnosis to avoid prenatal testing and fetal abortion.
Main Methods:
- Enzyme activity assays of sphingolipid hydrolases in human oocytes and embryos.
- Quantification of fluorescence after administering pyrene lipids into murine embryos.
- Using pyrene glucosylceramide and a beta-glucosidase inhibitor to model Gaucher disease.
Main Results:
- Sphingolipid hydrolase activities suggest Tay-Sachs, Gaucher, and Krabbe diseases are diagnosable in one blastomere.
- Niemann-Pick disease diagnosis may require two blastomeres.
- Increased fluorescence in enzyme-inhibited murine embryos confirmed substrate accumulation, validating the diagnostic approach.
Conclusions:
- Preimplantation genetic diagnosis of lipid storage diseases in single human blastomeres is feasible.
- This approach offers a less invasive alternative to traditional prenatal diagnosis.
- Early embryonic diagnosis could significantly impact reproductive choices for affected families.