Plin5 is abundantly expressed in the heart where it binds to lipid droplets (LDs) and facilitates physical interaction between LDs mitochondria. We isolated cardiomyocytes from adult Plin5+/+ Plin5-/- mice study role of for fatty acid uptake, LD accumulation, oxidation, tolerance hypoxia. Cardiomyocytes cultured with oleic stored less than Plin5+/+, but comparable levels when adipose triglyceri...

background: familial hypertrophic cardiomyopathy (hcm) is caused by mutations in genes encoding cardiac sarcomere proteins. nowadays genetic testing of hcm plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. the aim of this study was developing a reliable testing strategy for hcm based on linkage analysis and appropri...

Maternal hyperthyroidism effects development in infants and can lead to conditions such as craniosynostosis, exophthalmos, cardiac hypertrophy. Models for studying maternal hyperthyroidism, or thyrotoxicosis, are limited. Our lab has established an avian model study the of induced thyrotoxicosis on embryonic development. Thyroid hormones (TH) cause inotropic chronotropic changes tissue, includi...

Genotype-phenotype correlations provide another perspective in studies seeking to identify the factors that underlie the clinical variability that is a feature of several inherited diseases. This approach has been particularly revealing in investigations into the molecular causes and phenotypic heterogeneity associated with hypertrophic cardiomyopathy (HCM), a common inherited primary cardiac d...