Barth syndrome (BTHS) is caused by mutations in the TAZ gene encoding the cardiolipin remodeling enzyme, Tafazzin. The study objective was to quantitatively examine growth characteristics and mitochondrial morphology of transformed lymphoblast cell lines derived from five patients with BTHS relative to five healthy controls, as well as the therapeutic potential of oleoylethanolamide (OEA) and linoleoylethanolamide (LEA). These bioactive lipids both activate PPARα, which may be therapeutic. BTHS lymphoblasts grew more slowly than controls, suggesting lymphopenia merits clinical investigation. Treatment of BTHS lymphoblasts with OEA, but not LEA, significantly restored mitochondrial membrane potential, as well as colony growth in all BTHS lymphoblast lines, although a full growth rescue was not achieved. Quantification analysis of electron micrographs from three BTHS and healthy lymphoblast donors indicated similar numbers of mitochondria per cell, but lower average cristae length per mitochondrion, and higher mitochondrial density. Additionally, BTHS lymphoblasts had larger mitochondria, and a higher percentage of abnormally large mitochondria (> 1 μm2) than healthy controls. Notably, OEA treatment significantly restored mitochondrial size, without affecting density or cristae lengths. Cardiolipin total content, relative linoleic acid content and monolysocardiolipin:cardiolipin ratios were not improved by OEA, indicating that effects on growth, and mitochondrial morphology and function, occurred without resolving this deficit. However, immunoblotting showed higher levels of OPA1, a biomarker for mitochondrial fusion, in BTHS lymphoblasts, which was attenuated by OEA treatment, implicating altered mitochondrial dynamics in the pathology and treatment of BTHS.

Vancouver Island marmots (Marmota vancouverensis) (VIMs) are a critically endangered species of fat‐storing hibernators, endemic to Vancouver Island, British Columbia, Canada. In addition to in‐situ conservation efforts, a captive breeding program has been ongoing since 1997. The captive diet is mostly pellet‐based and rich in n−6 polyunsaturated fatty acids (PUFAs). In captivity, overall length of hibernation is shortened, and marmots have higher adipose tissue reserves compared to their wild‐born counterparts, which may be a risk factor for cardiovascular disease, the leading cause of mortality in captive marmots. To investigate differences in lipid metabolism between wild and captive populations of VIMs, blood vitamin E, fatty acid (FA) profiles and leptin, and white adipose tissue (WAT) FA profiles were compared during the active season (May to September 2019). Gas chromatography, high‐performance liquid chromatography, and multiplex kits were used to obtain FA profiles, α‐tocopherol, and leptin values, respectively. In both plasma and WAT, the concentration of the sum of all FA in the total lipids was significantly increased in captive VIMs. The n−6/n−3 ratio, saturated FAs, and n−6 PUFAS were higher in captive marmots, whereas n−3 PUFAs and the HUFA score were higher in wild marmots. Serum concentrations of α‐tocopherol were greater by an average of 45% in captive marmots, whereas leptin concentrations did not differ. Results from this study may be applied to improve the diet and implement weight management to possibly enhance the quality of hibernation and decrease the risk of cardiovascular and metabolic diseases of captive VIMs.