AI Article Synopsis
- Marfan syndrome (MFS) is an inherited disorder caused by mutations in the FBN1 gene that affect the protein Fibrillin 1, leading to issues in connective tissue.
- Patients with MFS face serious cardiovascular risks, including thoracic aortic aneurysm and increased chances of early death.
- Researchers created two induced pluripotent stem cell (iPSC) lines from MFS patients, which exhibited normal development features, and these cell lines can help explore new treatments for the disease.
Article Abstract
Marfan syndrome (MFS) is a hereditary condition caused by mutations in the FBN1 gene. Genetic mutations in the FBN1 locus impact the function of the encoded protein, Fibrillin 1, a structural molecule forming microfibrils found in the connective tissue. MFS patients develop severe cardiovascular complications including thoracic aortic aneurysm and aortic dissection, which predispose them to an enhanced risk of premature death. Here, we generated two induced pluripotent stem cell (iPSC) lines harboring mutations in the FBN1 gene (p.C1942C>A and c.1954 T>C), directly derived from MFS patients. We have shown that both iPSC lines displayed expression of pluripotency markers, normal karyotype and ability of trilineage differentiation, representing a valuable tool for the identification of new therapeutic strategies for intervening in this disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2024.103518 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.
JACC Case Rep
December 2024
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of .
View Article and Find Full Text PDFGenetic Manipulation of Caveolin-1 in a Transgenic Mouse Model of Aortic Root Aneurysm: Sex-Dependent Effects on Endothelial and Smooth Muscle Function.
Int J Mol Sci
November 2024
Biomedical Sciences Program, College of Graduate Studies, Midwestern University, Glendale, AZ 85308, USA.
Marfan syndrome (MFS) is a systemic connective tissue disorder stemming from mutations in the gene encoding Fibrillin-1 (Fbn1), a key extracellular matrix glycoprotein. This condition manifests with various clinical features, the most critical of which is the formation of aortic root aneurysms. Reduced nitric oxide (NO) production due to diminished endothelial nitric oxide synthase (eNOS) activity has been linked to MFS aortic aneurysm pathology.
View Article and Find Full Text PDFPotential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.
Semin Ophthalmol
December 2024
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Center, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Background: The anterior segment of the eye plays a crucial role in maintaining the normal intraocular pressure and vision. Developmental defects in the anterior segment structures lead to anterior segment dysgenesis (ASD) and primary congenital glaucoma (PCG), which share overlapping clinical features. Several genes have been mapped and characterized in ASD, some of which are also involved in other glaucoma phenotypes.
View Article and Find Full Text PDFSuccessful Kidney Transplant From a Donor With Marfan Syndrome: A Case Report.
Transplant Proc
December 2024
Department of Urology and Transplant, University of Toledo, Toledo, OH.
Marfan syndrome, a rare autosomal dominant connective tissue disorder caused by mutations in fibrillin-1, is primarily associated with cardiovascular complications such as aortic aneurysms and dissection. Despite the organ shortage crisis, kidneys from donors with Marfan syndrome are often rejected due to concerns about potential vascular complications. This case report presents the successful transplantation of a kidney from a 47-year-old male donor with Marfan syndrome into a 66-year-old female recipient with end-stage renal disease secondary to diabetic nephropathy.
View Article and Find Full Text PDFFibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.
Matrix Biol
November 2024
Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Japan. Electronic address:
Fibrillin-1, an extracellular matrix (ECM) protein encoded by the FBN1 gene, serves as a microfibril scaffold crucial for elastic fiber formation and homeostasis in pliable tissue such as the skin. Aside from causing Marfan syndrome, some mutations in FBN1 result in scleroderma, marked by hardened and thicker skin which limits joint mobility. Here, we describe a tight skin phenotype in the Fbn1 mice carrying a corresponding variant of FBN1 in the hybrid1 domain that was identified in a patient with familial aortic dissection.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!