Investigators:
- Iris L. Gonzalez, PhD
Background
Barth syndrome is a rare metabolic and neuromuscular disorder that is passed to male children through the sex-linked, or X, chromosome. Barth syndrome may result in poor heart function, poor muscle tone, delayed growth, susceptibility to infection, delayed motor skills, and metabolic changes.
Genetic testing for Barth syndrome became possible in 1996 when a gene called TAZ was identified as being responsible for this condition. Since then, some 70 different mutations have been identified in the gene, but it is not known how these mutations lead to the phenotypic spectrum of Barth syndrome which affects various tissue and organ systems. The initial publication describing the TAZ gene reported on multiple mRNAs that could lead to a variety of products in different tissues. In principle, these alternative products could in part explain variability in the syndrome, as some mutations would not affect all the possible products and thus might not affect all tissues/organs equally.
Our study seeks to characterize all the potential TAZ mRNAs in normal individuals and in individuals with Barth syndrome who have different mutations. We want to see which, if any, TAZ mRNAs are present in these individuals and how this correlates to the severity of their disease. We hope that this study will help to predict disease severity based on the type and location of a patients mutation.
For more information on Barth syndrome, go to www.barthsyndrome.org.
What We're Doing
The research includes:
- Characterizing the complete spectrum of TAZ gene products in normal individuals
- Characterizing the TAZ products made in cells from Barth syndrome patients to answer the question, "Do cells from patients with Barth syndrome make any functional product?"
Some of What We've Found
Presently, we have completed analysis of TAZ gene products in normal individuals. We found that the normal products are much less varied than previously thought. We have also completed the analysis for several patients and have found that each of them makes a characteristic set of products; however, none of these products appear to have normal function.