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ea0088004 | Abstracts | BES2022

Understanding pathogenic mechanisms and identifying therapeutic avenues in MEHMO syndrome using patient’s induced pluripotent stem cells

Hadis Shakeri , Izzet Mehmet Akcay , Mayank Bansal , Ying Cai , Chiara Vinci , Nathalie Pachera , Hanne Willems , Federica Fantuzzi , Yue Tong , Daniela Gasperikova , Miriam Cnop

Background and aims: MEHMO is an X-linked syndrome comprising Mental retardation, Epilepsy, Hypogenitalism, Microcephaly and Obesity. It is caused by a damaging p.Ile465Serfs frameshift mutation in EIF2S3 that encodes the &square; subunit of eukaryotic translation initiation factor 2 (eIF2), essential for protein synthesis and regulation of the integrated stress response. Patients with this EIF2S3 mutation also have neonatal hypoglycemia, early onset insulin-...

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ea0014p22 | (1) | ECE2007

Screening of 120 adipokines in subcutaneous adipose tissue of patients with growth hormone deficiency reveals changed protein levels

Gasperikova Daniela , Ukropec Jozef , Penesova Adela , Sell Henrike , Skopkova Martina , Vlcek Miroslav , Radikova Zofia , Koska Juraj , Belan Vitazoslav , Pura Mikulas , Vanuga Peter , Payer Juraj , Eckel Jurgen , Klimes Iwar

The role of adipokines and inflammatory cytokines of adipose tissue for development of the growth hormone deficiency (GHD)-related metabolic derangements has not yet been completely understood. Therefore, we screened the protein level of 120 adipokines in subcutaneous adipose tissue (ScAT) of patients with GHD in adulthood.Subjects and methods: Sixteen GHD (10M/6F) with BMI 27±1.0 kg/m2, age 30±2 yrs and sixteen controls matched for ...

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Endocrine Abstracts

Understanding pathogenic mechanisms and identifying therapeutic avenues in MEHMO syndrome using patient’s induced pluripotent stem cells

Screening of 120 adipokines in subcutaneous adipose tissue of patients with growth hormone deficiency reveals changed protein levels

BiosciAbstracts