Barth Syndrome Flashcards
primarily affects males, females are carriers
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Signs and symptoms of BS
cardiomyopathy–weak heart muscle; exercise intolerance; all muscles have a reduced ability to produce energy– muscle weakness and increased fatigue (no stamina); growth delay–boys are usually smaller in height and weight
major clinical problems of BS
heart failure, irregular beart beat; serious bacterial infections; growth delay; exercise intolerance, lack of stamina
many BS victims die of heart failure in infancy or early childhood; some survive to late 40s
10/4
cures for BS?
no cure; can manage symptoms–use physical therapy; antibiotics; heart meds; heart transplant
causes of barth syndrome
cardiolipin deficieny–mitochondria cannot make adequete amounts of tetralineoyl-cardiolipin
what is tetralinoleoyl-cardiolipin?
type of cardiolipin with 4 linoleic acids attached; present mostly in inner mito membrane; synthesized only in mito; most abundant in cardiac tissue; ESSENTIAL for oxphos–holds ETC together;essential lipid for normal mitochondrial structure and energy–lack of it = weak/no mito= little/no energy
where is the defect?
in the tafazzin gene–highly expressed in heart muscle; on x chromosome
what is the cardiolipin biosynthesis pathway?
phosphatic acid–>CDP-DAG–>PG-P–>PG–>nascent CL–>MLCL (monolysocardiolipin)
what does tafazzin do?
takes a FA from phos. choline and adds it to MLCL–>completes the remodelling process of CL
where is tafazzin present in the cell?
outer mitochondrial membrane but still in the IMS
what are the treatments being looked into?
enzyme replacement therapy; tafazzin must contain a cell-penetrating protein andtafazzin can then correct metabolic and functional defects
3 things to note during enyzme replacement
enzyme must be easily synthestized and purified; purified protein must be able to reach and enter the affect cells (mito); enzyme must retain its activity
