# Cilia and Valvular Heart Disease

> **NIH NIH R01** · MEDICAL UNIVERSITY OF SOUTH CAROLINA · 2024 · $559,990

## Abstract

PROJECT SUMMARY
Based on genetic and cellular discoveries made in the PI lab and his collaborators, this proposal focuses on
novel mechanisms that are critical for formation of heart valves. Data presented in the proposal are an evolution
of our studies presented in the first round of funding and show that mutations in the DZIP1 gene cause a very
common heart valve disease (i.e., mitral valve prolapse) and can be caused by errors in how valve tissue forms
during development. These discoveries have led to a novel concept that cilia are involved in valve development.
While the function of DZIP1 is a focus of our studies in this proposal, we will also define new mechanisms by
which the cardiac valves establish a trilaminar ECM organization and how this can feed back to the cells to
suppress ciliogenesis in specific regions of the valve. Our studies will provide unique opportunities to answer
questions about heart-valve diseases that heretofore have been impossible to answer using even state-of-the-
art biological and genetic approaches.
Valvular heart disease is a serious clinical problem, affecting 5-7% of the human population. Its complications
include congestive heart failure, endocarditis, atrial arrhythmias, and sudden death. There are no known non-
surgical cures for this group of disease. The proposed work capitalizes on previously unrecognized genetic data
collected from heart valve disease patients; studies in the mouse show that this class of genes is an important
and previously unrecognized contributor to valve structural development and disease pathogenesis. The
uncovering of this particular disease gene and the processes it regulates holds great potential for future remedial
or therapeutic insight towards regeneration or formation of mechanically stable valve tissue that will be beneficial
to valvular heart disease patients.

## Key facts

- **NIH application ID:** 10806176
- **Project number:** 5R01HL131546-07
- **Recipient organization:** MEDICAL UNIVERSITY OF SOUTH CAROLINA
- **Principal Investigator:** Russell Norris
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $559,990
- **Award type:** 5
- **Project period:** 2016-07-01 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10806176

## Citation

> US National Institutes of Health, RePORTER application 10806176, Cilia and Valvular Heart Disease (5R01HL131546-07). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10806176. Licensed CC0.

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