High-Fat Diet Has a Protective Sex-Dependent Effect on Aortic Aneurysm Severity in a Marfan Syndrome Mouse Model

Lau, Cori; Muthu, Muthu L.; Siddiqui, Iram; Li, Ling; Reinhardt, Dieter P.

doi:10.1016/j.cjca.2023.07.020

Cited by 4 publications

(1 citation statement)

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“…Another possible treatment for at least some of the signs and symptoms of MFS comes from a recent study of homozygous mgR/mgR mice ( Lau et al 2023 ) administered a high-fat diet. These animals were protected from aortic aneurysm.…”

Section: Fibrillin-1 and Marfan Syndromementioning

confidence: 99%

Genetic models of fibrillinopathies

Summers

2023

Genetics

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The fibrillinopathies represent a group of diseases in which the 10–12 nm extracellular microfibrils are disrupted by genetic variants in one of the genes encoding fibrillin molecules, large glycoproteins of the extracellular matrix. The best-known fibrillinopathy is Marfan syndrome, an autosomal dominant condition affecting the cardiovascular, ocular, skeletal, and other systems, with a prevalence of around 1 in 3,000 across all ethnic groups. It is caused by variants of the FBN1 gene, encoding fibrillin-1, which interacts with elastin to provide strength and elasticity to connective tissues. A number of mouse models have been created in an attempt to replicate the human phenotype, although all have limitations. There are also natural bovine models and engineered models in pig and rabbit. Variants in FBN2 encoding fibrillin-2 cause congenital contractural arachnodactyly and mouse models for this condition have also been produced. In most animals, including birds, reptiles, and amphibians, there is a third fibrillin, fibrillin-3 (FBN3 gene) for which the creation of models has been difficult as the gene is degenerate and nonfunctional in mice and rats. Other eukaryotes such as the nematode C. elegans and zebrafish D. rerio have a gene with some homology to fibrillins and models have been used to discover more about the function of this family of proteins. This review looks at the phenotype, inheritance, and relevance of the various animal models for the different fibrillinopathies.

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Section: Fibrillin-1 and Marfan Syndromementioning

confidence: 99%