Metabolic vulnerability identified that may affect heart development
The heart undergoes major changes during the first weeks of life. Researchers at Karolinska Institutet have now shown that a previously unknown metabolic vulnerability in mitochondria can disrupt heart development. The study, published in Science Advances, could improve our understanding of rare mitochondrial diseases that affect the heart.
During fetal development, the heart undergoes significant changes as it grows and matures. Researchers at Karolinska Institutet have uncovered a previously unknown metabolic vulnerability in mitochondria that can disrupt heart development. The study, published in Science Advances, sheds light on rare mitochondrial diseases affecting the heart.
During the transition from milk to solid food, conditions change rapidly, with oxygen availability increasing and nutrition shifting from milk to carbohydrates. In the study, researchers investigated the role of the molecule SAM in this process. SAM is crucial for producing lipoic acid, which is vital for several important metabolic enzymes within mitochondria.
By using genetically modified mice with a deleted gene encoding the mitochondrial SAM transporter, the researchers found that reduced SAM availability in mitochondria severely impaired lipoylation. This disruption led to metabolic pathways dysfunction and heart failure, as heart muscle cells failed to develop properly. The researchers observed that disease progression coincided with the transition from milk to carbohydrate-rich solid food.
They tested whether dietary intervention could help and found that supplementing the mice with medium-chain triglycerides, a type of fat their mitochondria could still utilize, improved metabolism, heart tissue structure, and slightly prolonged survival. While the findings suggest a potential treatment strategy for specific metabolic defects, the benefit was limited, and the results are based on a mouse model.
The researchers hope the findings will contribute to understanding rare mitochondrial disorders affecting the heart and plan to investigate whether the same metabolic vulnerability exists in human heart cells and patients with related mitochondrial diseases.
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