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Anderson's disease: no linkage to the apo B locus
D Strich1, R Goldstein, A Phillips
1Department of Pediatrics, Shaare Zedek Hospital, Jerusalem, Israel.
Journal of Pediatric Gastroenterology and Nutrition
|April 1, 1993
Summary
Anderson's disease patients exhibit persistent biochemical disorders, including impaired chylomicron secretion, suggesting a defect in lipid metabolism. Genetic analysis ruled out linkage to the apolipoprotein B locus.
Area of Science:
- Genetics
- Biochemistry
- Molecular Biology
Background:
- Anderson's disease is a rare genetic disorder.
- Characterized by impaired lipid absorption and transport.
- Previous studies suggested a potential link to apolipoprotein B.
Purpose of the Study:
- To investigate the underlying biochemical and genetic basis of Anderson's disease in a familial cohort.
- To explore the role of apolipoprotein B in the disease pathogenesis.
- To determine the genetic linkage of Anderson's disease.
Main Methods:
- Clinical observation and biochemical analysis of affected family members.
- Electron microscopy of intestinal cells.
- Genetic analysis using apolipoprotein B gene probes and VNTR polymorphism.
Main Results:
- Patients presented with infantile failure to thrive, diarrhea, and recurrent infections, followed by persistent biochemical abnormalities.
- Biochemical findings included low apolipoprotein A1 and B, cholesterol, avitaminosis E, and impaired chylomicron secretion.
- Electron microscopy revealed lipid vacuole accumulation in enterocytes, without significant Golgi aberration.
- Genetic analysis excluded linkage to the apolipoprotein B locus on chromosome 2.
Conclusions:
- Anderson's disease may stem from a defect in chylomicron assembly.
- The disease is not linked to the apolipoprotein B gene locus.
- Further research is needed to identify the specific gene responsible for Anderson's disease.