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- W2899797989 abstract "The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeostasis cause accumulation of misfolded/unfolded proteins in the ER. To maintain ER homeostasis, eukaryotic cells have evolved the unfolded protein response (UPR), an essential adaptive intracellular signaling pathway that responds to metabolic, oxidative stress, and inflammatory response pathways. The UPR has been implicated in a variety of diseases including metabolic disease, neurodegenerative disease, inflammatory disease, and cancer. Signaling components of the UPR are emerging as potential targets for intervention and treatment of human disease. MEHMO syndrome (OMIM# 300148) is a recently described disorder characterized by X-linked intellectual disability, epileptic seizures, hypogonadism, hypogenitalism, microcephaly, and obesity (2). It is caused my mutations in the EIF2S3. The EIF2S3 gene encodes the alpha subunit of eukaryotic translation initiation factor 2 (eIF2), crucial for initiation of protein synthesis and regulation of the ER stress response. MEMHO syndrome patients may have multiple endocrine manifestations including short stature, hypogonadism and obesity. In addition the manuscript by Stanik J et al report neonatal hypoglycaemia, hypopituitarism and neonatal diabetes mellitus. Thus MEMHO syndrome comes in the category of defects in the ER stress response and includes disorders such as Walcott-Rallison syndrome, Wolfram syndrome, Microcephaly, Epilepsy, and Diabetes Syndrome (MEDS) and the syndromic form of intellectual disability and diabetes caused by mutations in the PPP1R15B (3-6)." @default.
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- W2899797989 date "2018-09-11" @default.
- W2899797989 modified "2023-10-18" @default.
- W2899797989 title "Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy" @default.
- W2899797989 doi "https://doi.org/10.1530/ey.15.2.10" @default.
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