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Impact of NAD deficiency on congenital heart disease

Victor Chang Cardiac Research Institute & University of New South Wales

  • Cardiovascular Senior Researcher Grant
Date Funded:
  • 1 February, 2022
Chief Investigator/s:
  • Professor Sally Dunwoodie

Project Summary

Reducing the impact of nicotinamide adenine dinucleotide (NAD) deficiency in causing congenital heart disease (CHD), extra-cardiac anomalies (ECA) and miscarriage.

The main researcher for this project is Professor Sally Dunwoodie.

What is the issue for NSW?

CHD is the most common type of malformation representing a third of the total and can occur with ECA. CHD also accounts for the most birth defect hospitalisations. CHD is caused by genetic and/or environmental factors. However, in 80% of cases the specific cause is unknown, leaving affected families with limited to no options to minimise recurrence. We discovered that mutations in genes required to make NAD cause NAD deficiency which results in CHD+ECA and miscarriage in families. In mice, NAD deficiency and adverse pregnancy outcomes are prevented by vitamin B3. However, we currently do not know how common lowered NAD levels are in women and during pregnancy, and if it leads to CHD+ECA and miscarriage, and if so which form of vitamin B3 would best treat NAD deficiency.

What does research aim to do and how?

This study will quantify NAD in women to determine what are the normal levels of NAD and if levels are affected by pregnancy. It will then look for a link between low NAD and adverse pregnancy outcomes such as CHD+/-ECA and miscarriage. This study will quantify the effects of NAD gene mutations identified in CHD patients. This study will determine the best type of vitamin B3 to raise NAD levels to prevent adverse pregnancy outcomes, using mice.