Making sense of Marfan syndrome

In the July 15 issue of Genes & Development, Drs. Massimo Caputi, Raymond Kendzior Jr. and Karen Beemon of Johns Hopkins University report on their determination of a molecular mechanism of Marfan syndrome pathogenesis a discovery that may end the decade-long debate over how this relatively common genetic disorder develops.

Originally characterized in 1896, Marfan syndrome is a heritable disorder of the connective tissue, which usually affects the skeletal, respiratory, cardiovascular, and ocular systems, and is commonly associated with tall stature and markedly long limbs. In 1991 scientists discovered that Marfan syndrome is caused by mutations in the fibrillin 1 (FBN1) gene.

Now, more than a decade later, Dr. Beemon and colleagues are lending new insight into the mechanism by which some mutations in the FBN1 gene result in Marfan syndrome.

The FBN1 gene encodes the fibrillin protein, a component of the rod-like microfibrils that comprise the connective tissue. Mutations in the FBN1 gene that compromise fibrillin protein activity can, in turn, affect the integrity of the connective tissue and give rise to the symptoms associated with Marfan syndrome.

The FBN1 gene has 65 exons, or coding regions, that are separated by non-coding introns, which are removed from, or "spliced out of," the pre-mRNA transcript during nuclear processing. In the early 1990s, a Marfan syndrome patient was found to harbor a mutation in FBN1 exon 51 that causes the nuclear splicing machinery to skip exon 51 entirely. Skipping exon 51 is problematic, though, as exon 51-skipped fibrillin proteins have compromised function because the region encoded by exon 51 is critical for normal fibrillin protein activity.

Dr. Beemon and colleagues demonstrate that exon 51 skipping is the result of the disruption of an exonic splicing enhancer (ESE), a DNA sequence within the FBN1 gene that increases splicing efficiency. The scientists discovered that other type

Contact: Heather Cosel
Cold Spring Harbor Laboratory

Page: 1 2

Related biology news :

1. Making a friendlier mosquito
2. Making sense of the brains mind-boggling complexity
3. Making protein nanostructures
4. Making the most of stem cells
5. Making of mouse marks move toward mitochondrial medicine
6. Making new muscle: Researchers in Rome produce a mouse that can regenerate its tissues
7. Making sense of bacterial biodiversity
8. Making sense of the genome
9. Making a safer anthrax vaccine using spinach
10. A new twist on an age-old problem: Making knee replacements last
11. Making the most of lymphopenia

Post Your Comments:

(Date:12/4/2019)... ... December 04, 2019 , ... NDA Partners Chairman ... a regulatory toxicology expert with more than 20 years of experience working in ... Dr. Todd has extensive experience with a variety of biologic modalities including monoclonal ...
(Date:12/2/2019)... ... 01, 2019 , ... Each year The Scientist ... the life-science landscape. For more than a decade, our expert panels of independent ... biological discovery. This year’s crop of entries to The Scientist’s Top 10 Innovations ...
(Date:11/27/2019)... ... November 26, 2019 , ... ... their Glen Ellyn, IL practice for Invisalign® treatment. Invisalign orthodontics uses ... Patients with a misaligned bite, also known as malocclusion, present both functional and ...
Breaking Biology News(10 mins):
(Date:12/30/2019)... TOWNSHIP, N.J. (PRWEB) , ... December 30, 2019 ... ... of custom built, helium-based leak testing instruments for the Pharmaceutical, Biotechnology, Medical Device ... SIMS Version 1.11.19 21 CFR Part 11 compliant software program specific to the ...
(Date:12/27/2019)... , ... December 27, 2019 , ... ... studies for its 505(b)(2) product pipeline that offers patients and healthcare ... The products concepts were identified in collaboration with doctors and managed care professionals ...
(Date:12/18/2019)... SCOTTSDALE, Ariz. (PRWEB) , ... December 17, 2019 ... ... it has received its 31st FDA clearance for reprocessing Electrophysiology (EP) devices since ... where closest competitors, Stryker Sustainability Solutions and SterilMed (a Johnson & Johnson company) ...
(Date:12/18/2019)... ... December 18, 2019 , ... Tune in to CNBC ... by Ted Danson. Check local listings for more information on this program. , With ... reality are helping to simplify complex system to increase the efficiency, safety and effectiveness ...
Breaking Biology Technology:
Cached News: