Announced transfer to Division of Gastroenterology and Inborn Errors of Metabolism Products (DGIEP) at FDAwith respect to
Barth syndrome program, previously assigned to the Division of Neurology Products.
Barth syndrome is an ultra-rare mitochondrial disease in which reduced levels of the mitochondrial phospholipid cardiolipin are associated with skeletal muscle weakness, debilitating fatigue, cardiac abnormalities, recurrent infections, delayed growth as well as reduced life expectancy.
The overproduction of 3-MGA is associated with a group of heterogeneous mitochondrial disorders collectively known as the "3-MGA-urias," of which
Barth syndrome is one type.
Yang et al., "Modeling the mitochondrial cardiomyopathy of
Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies," Nature Medicine, vol.
Each participant pays a fee (or gets sponsors to help them do so) of which approximately 60% will go to the
Barth Syndrome Foundation and the rest to the purchase of boards.
The engineered diseased tissue contracted very weakly, as would the heart muscle seen in
Barth syndrome patients.
Tafazzin mutation causes impaired cardiac function in
Barth syndrome patients [42] and tafazzin knockdown in mice reduces cardiac and skeletal muscle contractility [14, 43].
Because its role in apoptosis and mitochondrial function, CL levels and CL peroxidation have been implicated in several humandiseasessuchasatherosclerosis 12], cancer [13],
Barth syndrome [14], and neurodegenerative disorders including Alzheimer's [15] and Parkinson's disease [16].
The tot suffered from
Barth Syndrome, which weakens the heart.
Baby I was born with
Barth syndrome, which caused a weak heart.
Novel gene mutations in patients with left ventricular noncompaction or
Barth syndrome. Circulation 2001;103:1256-1263.
Sarah Cane, of Marton, Middelsbrough, brings her three-year-old son Will to the hospice for help and treatment with
Barth Syndrome, a genetic disorder that affects his growth and development.
