TITLE
Monoclonal Antibodies Against the Barth Syndrome Gene Product, TAZ1, for Research and Diagnostic Applications
CASE NUMBER
C12086
Unmet Need: Barth syndrome (BTHS) is an X-linked disease characterized by cardiac and skeletal myopathies, delayed growth until puberty, and cyclic neutropenia; if undiagnosed, affected boys have only a 30% chance of survival to age four. The BTHS gene TAFAZZIN encodes a monolysocardiolipn transacylase that is evolutionarily conserved from yeast to humans. Until now, efforts to characterize TAZ1 and mammalian models of BTHS have been hampered by the absence of commercially available antibodies that specifically detect the endogenous protein in any context. Further, current diagnostic tests involve taking small samples of blood and analyzing the phospholipid composition by liquid chromatography tandem mass spectrometry which is expensive and is only being performed for the diagnosis of BTHS by a couple of laboratories worldwide. An alternative and inexpensive means of diagnosing BTHS is to utilize highly specific monoclonal antibodies against TAZ1 in an ELISA format to detect if TAZ1 is expressed in a patient suspected of having BTHS.
Value Proposition: JHU researchers developed and characterized six hybridomas that secrete three different monoclonal antibodies that specifically detect human TAZ1 in cellular extracts. Moreover, at least one of the monoclonal antibodies additionally recognizes murine, rat, and bovine TAZ1 orthologs. The antibodies could be conjugated with assorted agents making them widely useful in research applications as well as possibly for the development of Barth-Syndrome diagnostic tests.
