Tafazzin

Tafazzin is a protein that in humans is encoded by the TAZ gene. It is involved in the metabolism of cardiolipin, a lipid that is important in mitochondrial function. Mutations in this gene are associated with Barth syndrome.

Function

Tafazzin is a transacylase that is involved in the remodeling of cardiolipin, a lipid that is important in the function of mitochondria. It catalyzes the transfer of fatty acyl groups from one cardiolipin molecule to another, which is a critical step in the maturation of cardiolipin.

Clinical significance

Mutations in the TAZ gene, which encodes tafazzin, are associated with Barth syndrome, a rare genetic disorder characterized by cardiomyopathy, neutropenia, and growth delay. The disease is X-linked and primarily affects males. The mutations lead to a reduction in the amount of mature cardiolipin in mitochondria, which impairs mitochondrial function and leads to the symptoms of the disease.

Research

Research into tafazzin and its role in cardiolipin metabolism has potential implications for the treatment of Barth syndrome and other diseases that involve mitochondrial dysfunction, such as Parkinson's disease and type 2 diabetes.

See also

• Barth syndrome
• Cardiolipin
• Mitochondria

References

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