Publications by authors named "Stephanie Lilja"
Article Synopsis
- Biallelic SUFU variants are linked to severe conditions like Joubert syndrome, while heterozygous truncating variants are associated with milder issues such as developmental delay and ocular motor apraxia, though limited cases have been studied. !* -
- The study examined nine individuals across three families with truncating SUFU variants, detailing their neuroimaging and developmental assessments to explore the phenotypic expression of these variants. !* -
- Findings revealed a wide range of symptoms including motor developmental delays and subtle neuroimaging abnormalities, indicating that SUFU haploinsufficiency presents with varying severity, even among family members. !*
Background: Regular, especially sustained exercise plays an important role in the prevention and treatment of multiple chronic diseases. Some of the underlying molecular and cellular mechanisms behind the adaptive response to physical activity are still unclear, but recent findings suggest a possible role of epigenetic mechanisms, especially miRNAs, in the progression and management of exercise-related changes. Due to the combination of the analysis of epigenetic biomarkers (miRNAs), the intake of food and supplements, and genetic dispositions, a "fitness score" was evaluated to assess the individual response to nutrition, exercise, and metabolic influence.
View Article and Find Full Text PDFHealthy mitochondria and their epigenetic control are essential to maintaining health, extending life expectancy, and improving cardiovascular performance. Strategies to maintain functional mitochondria during aging include training; cardiovascular exercise has been suggested as the best method, but strength training has also been identified as essential to health and healthy aging. We therefore investigated the effects of concurrent exercise training and dietary habits on epigenetic mechanisms involved in mitochondrial (mt) functions and biogenesis.
View Article and Find Full Text PDFPeriodic fasting (PF) is an increasingly popular approach that assists in the management of metabolic and inflammatory diseases as well as in preventing mechanisms involved in aging. However, little is known about the effects of fasting on gut microbiota and its impact on the epigenetic regulation of metabolically relevant enzymes, especially sirtuins (SIRTs). We analyzed the effect of periodic fasting on the human gut microbiota, SIRTs expression, and mitochondrial content in 51 males and females.
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on the effects of various bioactive compounds on the inflammation related to senescent (aging) preadipocytes, which are fat cells, and how these compounds may modulate harmful signaling in obesity.
- Various methods were used, including treating cells with bromodeoxyuridine to induce senescence, measuring specific enzyme activity, and analyzing cytokine levels to assess inflammation changes.
- Results indicated that compounds like EGCG and resveratrol demonstrated potential to reduce inflammation markers and affect cell aging, suggesting they could be beneficial in managing obesity-related inflammation.