Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four adolescents or young adults with the Prader-Willi syndrome (hypotonia, mental retardation, hypogonadism and obesity) received a protein-sparing modified fast consisting of 1.5 g of meat protein per kilogram of ideal body weight and meeting vitamin, mineral and fluid requirements. Evaluation of nitrogen and energy metabolism revealed the development of starvation ketosis and a positive nitrogen balance. Serial whole-body potassium measurements in two patients confirmed preservation of lean tissue despite continuing loss of weight. Clinical diabetes mellitus in two subjects was rapidly ameliorated by the regimen. Short-term weight loss greater than 18 kg occurred in three of the four subjects, and reduced weight persisted during observation periods of 26 to 44 months. This degree of outpatient diet adherence by mentally deficient subjects, who do not normally experience satiety, suggests that hunger is eliminated or at least reduced by modified, protein-sparing fasting.
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PMID:Metabolic aspects of a protein-sparing modified fast in the dietary management of Prader-Willi obesity. 84 Feb 78

The spine morphology of LV--pyramidal neurons in the cingulate cortex was analyzed, using drawings of apical side dendrites without ramifications, by light microscopical analysis of 5300 times magnification in GOLGI-preparations of the brains of 11 and 60 days old control rats as well as of experimental animals reared under starvation conditions from day 1 till day 60 of their postnatal life. The spine density and the relative frequency of three different spine types (thin, mushroom and stubby shaped) was estimated in control and undernourished animals. Undernutrition resulted in a considerable deficit in the spine number of 25% in 11 days old animals, respectively, of 41% in 60 days old animals. Additionally, in 60 days old undernourished rats changes in the relative frequency of the three spine types was found. To the thin type belonged 46% (68% in controls) to the mushroom shaped form 37% (19% in controls) and to the stubby type 16% (13% in controls) of all visible spines. This pattern in 60 days old undernourished rats was very similar to the pattern of 11 days old control animals (thin 43%, mushroom 36%, stubby 22%). The evaluate the differentiation of the dendritic spines during ontogenesis as well as the disturbing influence of undernutrition on these processes, additional data of the spine morphology (neck length and head area) were collected. The spines of the 11 days old animals showed a larger head area (undernourished and controls) than the young adult ones. However, the thin spine type present in 60 days old undernourished rats exhibits morphological features (extremely long necks of about 2,5 micron in comparison to 1,6 micron in controls as well as very large heads) which appeared to be quite similar to the thin and long spine type observed by PURPURA (1975) in human fetal cortex and in cortex of patients with mental retardation. This super long thin spine type is considered to be a less ripe stage of the spine development. The relative high portion of mushroom and stubby shaped spines in undernourished and young animals points to the same assumption or to degenerative changes in the experimental animals.
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PMID:[Effect of nonspecific malnutrition on spine morphology of lamina V pyramidal cells of the cingulate area of juvenile and adult rats]. 644 22

Iodine deficiency remains the most frequent cause worldwide, after starvation, of preventable mental retardation in children. It causes maternal hypothyroxinemia, which affects pregnant women even in apparently iodine-sufficient areas, and often goes unnoticed because L-thyroxine (T4) levels remain within the normal range, and thyroid-stimulating hormone (TSH) is not increased. Even a mild hypothyroxinemia during pregnancy increases the risk of neurodevelopmental abnormalities, and experimental data clearly demonstrate that it damages the cortical cytoarchitecture of the fetal brain. The American Thyroid Association (ATA) recommends a supplement of 150 microg iodine/day during pregnancy and lactation, in addition to the use of iodized salt. We discuss the importance of iodine supplementation to ensure adequate T4 levels in all women who are considering conception and throughout pregnancy and lactation.
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PMID:Iodine supplementation during pregnancy: a public health challenge. 1796 37

The lysosome degrades and recycles macromolecules, signals to the master growth regulator mTORC1 [mechanistic target of rapamycin (mTOR) complex 1], and is associated with human disease. We performed quantitative proteomic analyses of rapidly isolated lysosomes and found that nutrient levels and mTOR dynamically modulate the lysosomal proteome. Upon mTORC1 inhibition, NUFIP1 (nuclear fragile X mental retardation-interacting protein 1) redistributes from the nucleus to autophagosomes and lysosomes. Upon these conditions, NUFIP1 interacts with ribosomes and delivers them to autophagosomes by directly binding to microtubule-associated proteins 1A/1B light chain 3B (LC3B). The starvation-induced degradation of ribosomes via autophagy (ribophagy) depends on the capacity of NUFIP1 to bind LC3B and promotes cell survival. We propose that NUFIP1 is a receptor for the selective autophagy of ribosomes.
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PMID:NUFIP1 is a ribosome receptor for starvation-induced ribophagy. 3006 25

Autophagy ensures the lysosome-mediated breakdown and recycling of self-material, as it not only degrades obsolete or damaged intracellular constituents but also provides building blocks for biosynthetic and energy producing reactions. Studies in animal models including Drosophila revealed that autophagy defects lead to the rapid decline of neuromuscular function, neurodegeneration, sensitivity to stress (such as starvation or oxidative damage), and stem cell loss. Of note, recently identified human Atg gene mutations cause similar symptoms including ataxia and mental retardation. Physiologically, autophagic degradation (flux) is known to decrease during aging, and this defect likely contributes to the development of such age-associated diseases. Many manipulations that extend lifespan (including dietary restriction, reduced TOR kinase signaling, exercise or treatment with various anti-aging substances) require autophagy for their beneficial effect on longevity, pointing to the key role of this housekeeping process. Importantly, genetic (e.g., Atg8a overexpression in either neurons or muscle) or pharmacological (e.g., feeding rapamycin or spermidine to animals) promotion of autophagy has been successfully used to extend lifespan in Drosophila, suggesting that this intracellular degradation pathway can rejuvenate cells and organisms. In this review, we highlight key discoveries and recent progress in understanding the relationship of autophagy and aging in Drosophila.
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PMID:On the Fly: Recent Progress on Autophagy and Aging in Drosophila. 3139 11

Centriolar satellites are non-membrane cytoplasmic granules that deliver proteins to centrosome during centrosome biogenesis and ciliogenesis. Centriolar satellites are highly dynamic during cell cycle or ciliogenesis and how they are regulated remains largely unknown. We report here that sorting nexin 17 (SNX17) regulates the homeostasis of a subset of centriolar satellite proteins including PCM1, CEP131, and OFD1 during serum-starvation-induced ciliogenesis. Mechanistically, SNX17 recruits the deubiquitinating enzyme USP9X to antagonize the mindbomb 1 (MIB1)-induced ubiquitination and degradation of PCM1. SNX17 deficiency leads to enhanced degradation of USP9X as well as PCM1 and disrupts ciliogenesis upon serum starvation. On the other hand, SNX17 is dispensable for the homeostasis of PCM1 and USP9X in serum-containing media. These findings reveal a SNX17/USP9X mediated pathway essential for the homeostasis of centriolar satellites under serum starvation, and provide insight into the mechanism of USP9X in ciliogenesis, which may lead to a better understating of USP9X-deficiency-related human diseases such as X-linked mental retardation and neurodegenerative diseases.
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PMID:SNX17 Recruits USP9X to Antagonize MIB1-Mediated Ubiquitination and Degradation of PCM1 during Serum-Starvation-Induced Ciliogenesis. 3167 55