Mitochondria Polymorphism in Neurofibromatosis Type 1
Abstract
Individuals with Neurofibromatosis Type 1 are haplotypic carriers of mutations in the NFl-gene. These mutations predispose all individuals to have symptoms of NFl, however, there is extreme variation about the severity of these symptoms. We proposed that other genetic factors than the NFl gene are modifying disease severity. There is strong evidence that mitochondrial polymorphisms might contribute to this variation, and we attempt here to study the impact of these polymorphisms on the number of neurofibromas of NFl patients. Two approaches are taken to identify mitochondrial polymorphisms in NFl: First, mitochondrial DNA from a subpopulation of NFl patients with few neurofibroma numbers is compared with mtDNA from a subpopulation of NFl patients with high neurofibroma numbers. About 200 Patients need to be analyzed in each group. Second (and independently), mitochondrial DNA from a neurofibroma is compared with mitochondrial DNA from peripheral blood from the same patient. About 20 paired samples need to be analyzed. Up to now, we have collected DNA from 45 patients for polymorphism analyses using the first approach. We have collected 10 paired DNA/peripheral blood DNA samples for the second approach. Using these 10 samples, mitochondrial DNA mutations have been found.
Document Details
- Document Type
- Technical Report
- Publication Date
- Nov 01, 2001
- Accession Number
- ADA400622
Entities
People
- Andreas Kurtz
Organizations
- Massachusetts General Hospital