Rare Inborn Defect of Cardiolipin Structure Helps to Disclose the Pathogenesis of the Frequent Diseases

Rare Inborn Defect of Cardiolipin Structure Helps to Disclose the Pathogenesis of the Frequent Diseases

Birutė Skerlienė

Summary

The mitochondrial phospholipid cardio- lipin (CL) plays an important role in cellular metabolism, mitochondrial en­ergy production and apoptosis. Barth syndrome (BTHS) is the first disease of CL structure pathology described in human. BTHS is very rare X-linked re­cessive disorder clinically character­ized by cardiomyopathy, myopathy, neutropenia, growth abnormalities, methylglutaconic aciduria and hypo- carnitinemia. BTHS is caused by muta­tions in the tafazzin gene. Biochemical abnormalities include decreased levels of the mitochondrial phospholipid CL, in creased lev els of mono lyso cardio- lipin, and a lower degree of unsatura­tion of the (monolyso)cardiolipin acyl chains. BTHS deserves great interest of investigators studying ageing pro­cesses, pathogenesis of cardiovascular, neurological, oncological pathology, di­abetes, pathology and other. This arti­cle is aimed to overview CL characteris­tics, recent investigations and BTHS peculiarities. The clinical case of the patient with BTHS is presented.

Keywords: Barth syndrome, BTHS, cardiolipin, cardiomyopathy, disease, pathogenesis.