FLAVIO SANTILLI

PhD Graduate

PhD program:: XXXVII



Thesis title: Systematic dissection of intergenerational epigenetic inheritance induced by paternal low protein diet

Diet plays a crucial role in human health and disease, with broad impact on multi- ple aspects of modern societies. A healthy diet provides adequate macronutrients (carbohydrates, proteins, fats) and micronutrients (i.e., vitamins and minerals), nec- essary for correct development and physiology, with unbalanced dietary composition promoting pathological states at multiple tissue levels, finally affecting quality of life. Furthermore, unhealthy dietary habits before conception or during gestation rep- resent a risk factor for offspring metabolic disorder. Although maternal nutrition has long been recognized as a critical factor, growing evidence demonstrates that paternal nutrition has the potential to shape offspring metabolic physiology. Experiments in isogenic model organisms, revealed how this occurs by transmis- sion of epigenetic signals that modulate developmental trajectories in the progeny through a process called intergenerational epigenetic inheritance. One of the classic model of this phenomenon in mice is known as paternal Low Protein diet (LPD) paradigm, where reduction of protein to carbohydrate ratio triggers multi-organ reprogramming of lipid metabolism in their offspring, prominently affecting choles- terol homeostasis. LPD consumption is coupled with alteration of sperm epigenome including increased levels specific tRNA fragments (tRFs), which modulate early embryonic transcriptomic trajectories. However, it remains unclear to what extent LPD-induced intergenerational responses represent a universal mechanism conserved across distinct genetic backgrounds, and mechanistically direct evidence connecting sperm RNAs to postnatal metabolic outcomes in the progeny is still missing. Here, I examined the hepatic molecular consequences in LPD fathers and their progeny in FVB/NJ mice using two different models of LPD paradigms, to assess the robustness of intergenerational responses in mice. My results show consistent, albeit quantitatively variable, metabolic consequences across genetic backgrounds, char- acterized by decreased lipid oxidation in fathers and enhanced cholesterogenesis in their offspring. In contrast, altering the nutritional history preceding LPD exposure leads to variable responses, indicating that ancestral nutrition can prime metabolism, but the resulting phenotype depends on the combined influence of inherited dietary information and the individual’s metabolic state. To elucidate the molecular basis of this inheritance, I introduced synthetic 5’ tRNA- Gly-GCC fragments (5’tRF-GG), a sperm RNA consistently elevated in response to LPD, into control zygotes. The resulting progeny exhibited molecular features reminiscent of paternal LPD offspring, including enhanced cholesterol biosynthesis and reduced cholesteryl ester accumulation. These results indicate that 5’tRF-GG can partially reproduce the LPD-induced metabolic phenotype, implicating it as a carrier of paternal dietary signals. Collectively, this work provides compelling evidence of sperm tRNA fragments acting as molecular mediators of phenotypic responses to ancestral dietary conditions. At the same time, it demonstrates that both genetic background and experimental design critically influence the manifestation of intergenerational dietary effects, underscoring the need for standardized paradigms to ensure reproducibility and comparability across studies.

Research products

11573/1699006 - 2023 - Mechanisms of transgenerational epigenetic inheritance: lessons from animal model organisms
Santilli, F; Boskovic, A - 01g Articolo di rassegna (Review)
paper: CURRENT OPINION IN GENETICS & DEVELOPMENT (Current Biology Limited:84 Theobalds Road, London WC1X 8RR United Kingdom:011 44 20 76114202, EMAIL: info@biomednet.com, INTERNET: http://www.biomednet.com, Fax: 011 44 20 76114479) pp. - - issn: 0959-437X - wos: WOS:000954886800001 (18) - scopus: 2-s2.0-85149444132 (18)

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