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Related Experiment Video

Updated: May 30, 2025

An Image Guided Transapical Mitral Valve Leaflet Puncture Model of Controlled Volume Overload from Mitral Regurgitation in the Rat

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Published on: May 19, 2020

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Nadav Agam¹, Vadim Dolgin¹, Artyom Star²

¹The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be'er Sheva, Israel.

The Canadian Journal of Cardiology

|January 29, 2025

Summary

This summary is machine-generated.

A novel gain-of-function mutation in the TLL1 gene causes autosomal dominant mitral valve prolapse (MVP). This discovery offers new insights into valvular disease and TLL1

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Area of Science:

Genetics
Cardiology
Molecular Biology

Background:

Mitral valve prolapse (MVP) is a common heart condition.
Genetic mutations in various pathways can cause MVP.
A family with three generations exhibiting dominant isolated MVP was studied.

Purpose of the Study:

To identify the genetic cause of isolated mitral valve prolapse (MVP) in a multi-generational family.
To investigate the functional consequences of identified genetic variants.
To understand the role of TLL1 in valvular disease.

Main Methods:

Clinical evaluation and echocardiography of 13 family members.
Whole exome and genome sequencing to identify variants.
Sanger sequencing for variant segregation analysis.
Enzymatic activity assays of Tolloid-like 1 (TLL1) in transfected cells.

Main Results:

A heterozygous p.T253A variant in the TLL1 gene segregated with MVP in the family.
The TLL1 variant showed a 3.4-fold increase in enzymatic activity compared to wild-type.
6 out of 8 heterozygotes presented with MVP or trivial mitral regurgitation.

Conclusions:

A TLL1 gain-of-function mutation causes autosomal dominant MVP with variable expressivity.
This mutation prolongs the half-life of active TLL1 protein in the extracellular matrix.
Findings provide novel insights into TLL1's role in valvular physiology, development, and disease.