Trifunctional Protein Deficiency and its Effects on Cardiolipin Remodeling

Study results presented at the 2022 INFORM Lecture Series, by Dr Eduardo Vieira Neto, appears to show that trifunctional protein (TFP) deficiency is associated with disrupting cardiolipin deacylatoin and/or remodeling. TFP is a long-chain fatty acid oxidation disorder (LCFAOD).

Cardiolipin is an important component of the inner mitochondrial membrane. This disruption in remodeling can be attributed to the deficit in monolysocardiolipin acyltransferase functionality.

Read more about the more than 50 mutations in gene code for TFP found in patients and the results of the study.

The full article can be found here.