Energy production in mitochondria is vital for the survival and proper functioning of the human body. However, dysfunctions in this process can cause a variety of health problems, especially in conditions of chronic fatigue and metabolic diseases. One of the central points of this process is the enzyme pyruvate dehydrogenase, which plays a crucial role in the conversion of pyruvate to acetyl-CoA, essential for mitochondrial energy generation.
Mutations in the PDHA1 gene, which encodes this enzyme, can lead to a deficiency of pyruvate dehydrogenase, resulting in mitochondrial dysfunction. This is particularly relevant for people with conditions such as long Covid or chronic fatigue syndrome (ME/CFS), where the accumulation of lactate in the body is a common biomarker. When pyruvate is not properly converted in the mitochondria, lactate production increases, worsening symptoms of fatigue and compromising cellular function.
Although pyruvate dehydrogenase deficiency is a rare condition, understanding the mechanism is important, especially for those dealing with energy and fatigue issues. Recent studies have shown that mitochondrial dysfunction and increased lactate levels are associated with these conditions, suggesting that energy metabolism is directly linked to cellular health and overall well-being.
CPAH – Centro de Pesquisa e Análises Heráclito conducts studies and provides reports on genetic predispositions related to mitochondrial dysfunctions, such as pyruvate dehydrogenase deficiency, based on raw data sent by individuals. Through these analyses, it is possible to assess the predisposition to conditions that affect mitochondrial energy production, helping to understand the risks associated with increased lactate and chronic fatigue, among other symptoms. This information is essential for directing more personalized and preventive health care.
