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A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy
J Zlotogora1, Y Furman-Shaharabani, A Harris
1Department of Human Genetics, Hadassah Hospital and Medical School, Hebrew University, Jerusalem, Israel.
Journal of Medical Genetics
|September 1, 1994
Summary
Late infantile Metachromatic Leucodystrophy (MLD) is unusually common in Jerusalem
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Metachromatic leucodystrophy (MLD) is a rare genetic disorder.
- It results from a deficiency in the arylsulphatase A (ARSA) enzyme.
- This deficiency leads to the degeneration of the nervous system.
Purpose of the Study:
- To investigate the high incidence of late infantile MLD in Muslim Arabs from Jerusalem.
- To identify the genetic cause and potential origin of this MLD cluster.
Main Methods:
- Genetic analysis of the ARSA gene in affected individuals.
- ARSA haplotype analysis using intragenic polymorphic sites.
- Comparison of haplotypes across different ethnic groups and geographical origins.
Main Results:
- A high frequency of late infantile MLD was observed in Muslim Arabs from Jerusalem.
- All patients were homozygous for the 459 + 1 G-->A mutation in the ARSA gene.
- A common ARSA haplotype was found in linkage disequilibrium with the mutation, suggesting a founder effect.
Conclusions:
- The 459 + 1 G-->A mutation in the ARSA gene is likely the cause of MLD in this population.
- A founder effect, possibly introduced during the Crusades, may explain the high incidence.
- This highlights the importance of genetic studies in understanding disease prevalence in specific populations.