FBN1 Gene Point Mutation in an Autopsy Case with Myxomatous Degeneration of the Cardiovascular System

A 23 year-old male was pathologically examined post mortem at Tokyo Medical and Dental University. The patient died of circulation failure after a long state of cerebral death due to ventricular fibrillation. Myxomatous degeneration of the medial tunic and irregular hyperplasia of the intima were observed. These types of degenerations are observed as pathohistologic changes of Marfan syndrome (MFS), which is characterized by the systemic degeneration of elastic tissues caused by FBN1 gene mutation. We performed immunohistochemistry of FBN1 protein (fibrillin1) and found its downregulation in the vascular tissues. Cloning and sequencing of FBN1 gene revealed a point mutation in exon 27, which will make a substitution of protein sequence from proline to glycine. This mutation could alter elastic fiber stability and might have affected the conformation of vascular tissues of the patient.

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