Introduction
Tafazzin, encoded by the nuclear gene TAZ is primarily found in the inner mitochondrial membrane, where it plays an important role in cardiolipin (CL) remodeling (Xu et al. 2006). Tafazzin shares amino acid sequence homology to acyl transferases (Vreken et al. 2000). TAZ is located on chromosome Xq28 and comprises 11 exons and 2 alternative translation initiation sites (Johnston et al. 1997). Among four major transcripts: TAZ-FL (full-length), TAZ-Δ5 (lacking exon 5), TAZ- Δ7 (lacking exon 7) and TAZ-Δ5;7 (lacking exons 5 and 7), TAZ-Δ5 is most common (Gonzalez 2005). Mutations in TAZ may be found in each of its exons and introns. The mutations include single nucleotide substitutions, insertions, partial gene deletions, large deletions of several exons, partial gene duplications and splice site mutations (Aprikyan and Khuchua 2013).
Mutations in TAZ are associated with Barth syndrome (BTHS), an …show more content…
It is predominantly resides in the inner mitochondrial membrane and to a lesser extent in the outer mitochondrial membrane. CL is synthesized from its precursor phosphatidylglycerol, a common substrate in triacylglycerol and glycerolipid metabolism. After synthesis of primary CL its final mature composition is achieved through remodeling of its acyl chains. The mature form of CL is essential for proper mitochondrial functioning (Houtkooper et al. 2009). In patients with a TAZ mutation, acyl chain remodeling is defective, which leads to significant changes in CL acyl chain composition and loss of molecular symmetry (Schlame et al. 2005). The mature tissue-specific acyl pattern of CL is critical for normal mitochondrial physiology. In mitochondria, CL helps to maintain mitochondrial ultrastructure and stabilizes the assembly of respiratory chain complexes (Houtkooper and Vaz 2008). Only in the presence of CL, the respiratory complexes are able to form stable oligomeric supercomplexes (Pfeiffer et al.
Tafazzin, encoded by the nuclear gene TAZ is primarily found in the inner mitochondrial membrane, where it plays an important role in cardiolipin (CL) remodeling (Xu et al. 2006). Tafazzin shares amino acid sequence homology to acyl transferases (Vreken et al. 2000). TAZ is located on chromosome Xq28 and comprises 11 exons and 2 alternative translation initiation sites (Johnston et al. 1997). Among four major transcripts: TAZ-FL (full-length), TAZ-Δ5 (lacking exon 5), TAZ- Δ7 (lacking exon 7) and TAZ-Δ5;7 (lacking exons 5 and 7), TAZ-Δ5 is most common (Gonzalez 2005). Mutations in TAZ may be found in each of its exons and introns. The mutations include single nucleotide substitutions, insertions, partial gene deletions, large deletions of several exons, partial gene duplications and splice site mutations (Aprikyan and Khuchua 2013).
Mutations in TAZ are associated with Barth syndrome (BTHS), an …show more content…
It is predominantly resides in the inner mitochondrial membrane and to a lesser extent in the outer mitochondrial membrane. CL is synthesized from its precursor phosphatidylglycerol, a common substrate in triacylglycerol and glycerolipid metabolism. After synthesis of primary CL its final mature composition is achieved through remodeling of its acyl chains. The mature form of CL is essential for proper mitochondrial functioning (Houtkooper et al. 2009). In patients with a TAZ mutation, acyl chain remodeling is defective, which leads to significant changes in CL acyl chain composition and loss of molecular symmetry (Schlame et al. 2005). The mature tissue-specific acyl pattern of CL is critical for normal mitochondrial physiology. In mitochondria, CL helps to maintain mitochondrial ultrastructure and stabilizes the assembly of respiratory chain complexes (Houtkooper and Vaz 2008). Only in the presence of CL, the respiratory complexes are able to form stable oligomeric supercomplexes (Pfeiffer et al.