Related Experiment Videos
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.
Insights
Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene. Researchers identified a new protein, marenostrin, and found variations in it linked to FMF disease.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
- FMF is characterized by recurrent episodes of fever and serositis.
Purpose of the Study:
- To identify the gene responsible for FMF.
- To characterize the genetic variations associated with FMF.
Main Methods:
- Defined a minimal co-segregating region of 60 kb containing the FMF gene (MEFV).
- Identified four transcript units within this region, including one encoding marenostrin.
- Analyzed MEFV gene variations in FMF patients and controls.
Main Results:
- Identified four conservative missense variations within the MEFV candidate gene in 85% of FMF carrier chromosomes.
- These variations cluster at the carboxy-terminal domain of the marenostrin protein.
- No variations were found in 308 control chromosomes.
Conclusions:
- Sequence alterations in the marenostrin protein are proposed as the cause of FMF.
- The MEFV gene is identified as the FMF disease gene.