The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed

被引:0
作者
Prada, Elisabetta [1 ]
Marchetti, Giulia Bruna [2 ]
Marafon, Denise Pires [3 ]
Mazzocchi, Alessandra [2 ]
Scuvera, Giulietta [2 ]
Pezzani, Lidia [2 ,4 ]
Agostoni, Carlo [2 ,5 ]
Milani, Donatella [2 ]
机构
[1] Azienda Socio Sanit Territoriale Lariana, I-22100 Como, Italy
[2] Fdn IRCSS CaGranda Osped Maggiore Policlin, I-20122 Milan, Italy
[3] Univ Sapienza Roma, Specializat Sch Med Stat & Biometry, Dept Publ Hlth & Infect Dis, I-00185 Rome, Italy
[4] ASST Papa Giovanni XXIII, Lab Genet Med, I-24127 Bergamo, Italy
[5] Univ Milan, Dept Clin & Community Sci, I-20133 Milan, Italy
关键词
Rubinstein-Taybi; sotos; chromatinopathies; rest energy expenditure; metabolism; MENDELIAN DISORDERS; GROWTH;
D O I
10.3390/genes16010104
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页数:9
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