What does the TAZ gene do?
Function. The TAFAZZIN gene provides instructions for producing a protein called tafazzin, which is localized to mitochondria, the energy-producing centers of cells. Tafazzin transacylase activity is responsible for cardiolipin remodeling, critical to maintaining mitochondrial inner membrane structure and function.
What is Barth syndrome?
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy ), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature.
Is Tafazzin an enzyme?
Tafazzin is a putative enzyme that is involved in cardiolipin metabolism, it may carry mutations responsible for Barth syndrome. To identify the biochemical reaction catalyzed by tafazzin, we expressed the full-length isoform of Drosophila melanogaster tafazzin in a baculovirus-Sf9 insect cell system.
What type of lipid is cardiolipin?
Cardiolipin (CL) is a phospholipid, which is exclusively located in mitochondria, and has a unique structure that consists of 2 phosphate residues and 4 kinds of fatty acyl chains.
What is Leighs disease?
Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.
Is cardiolipin present in heart?
Mitochondria play an essential role in the energy metabolism of the heart. Many of the essential functions are associated with mitochondrial membranes and oxidative phosphorylation driven by the respiratory chain. Mitochondrial membranes are unique in the cell as they contain the phospholipid cardiolipin.
What is cardiolipin in syphilis?
syphilis. Cardiolipin is the lipid which, in combination. with lecithin, gives the alcoholic extract of beef. heart its antigenic properties.
What is Saethre Chotzen syndrome?
Saethre-Chotzen syndrome is a genetic disorder characterized by varied and broad skull, face, and limb anomalies. TWIST gene mutations are responsible for causing the early fusion of the skull.
What is Homoplasmy and Heteroplasmy?
Thus a cell can have a mixture of normal and abnormal mitochondrial genomes, which is referred to asheteroplasmy. In contrast,homoplasmy refers a state in which all copies of the mitochondrial genome carry the same sequence variant.
What causes Leighs disease?
Leigh’s disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh’s disease usually progress rapidly.