{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:41:43Z","timestamp":1759970503158,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,19]],"date-time":"2025-01-19T00:00:00Z","timestamp":1737244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated. Background\/Objectives: In several MDEMs, a predisposition to metabolic syndrome and obesity since childhood has been reported. Methods: To investigate the metabolic bases of this abnormal growth, we collected physical data from a heterogeneous pool of 38 patients affected by MDEMs. Thirty-five patients performed indirect calorimetry (as a measure of resting energy expenditure, REE) and blood tests to monitor plasmatic nutritional parameters. Conclusions: Although limited by a small-sized and heterogeneous sample, our study demonstrates a linear correlation between REE and physical parameters, OFC, height and weight, and observed a slight imbalance on several plasmatic spies of metabolic syndrome predisposition. Furthermore, we demonstrated a significantly higher REE in Sotos Syndrome type 1 patients compared to the controls, which resulted independent from height, suggesting that impaired metabolism in these patients may go beyond overgrowth.<\/jats:p>","DOI":"10.3390\/genes16010104","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T04:04:12Z","timestamp":1737345852000},"page":"104","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed"],"prefix":"10.3390","volume":"16","author":[{"given":"Elisabetta","family":"Prada","sequence":"first","affiliation":[{"name":"Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia Bruna","family":"Marchetti","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Pires Marafon","sequence":"additional","affiliation":[{"name":"Department of Public Health and Infectious Diseases, Specialization School in Medical Statistics and Biometry, Universit\u00e0 Sapienza di Roma, 00185 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0291-2874","authenticated-orcid":false,"given":"Alessandra","family":"Mazzocchi","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulietta","family":"Scuvera","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Pezzani","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"},{"name":"Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5006-0832","authenticated-orcid":false,"given":"Carlo","family":"Agostoni","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"},{"name":"Department of Clinical and Community Sciences, Universit\u00e0 degli Studi di Milano, 20133 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Fondazione IRCSS Ca\u2019 Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/cge.13365","article-title":"Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms","volume":"95","author":"Larizza","year":"2019","journal-title":"Clin. 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