Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031099 (periodontitis)
 12,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ehlers-Danlos syndrome is a rare disorder, comprising a group of related inherited disorders of connective tissue, resulting from underlying abnormalities in the synthesis and metabolism of collagen. This proposal is specifically concerned with Ehlers-Danlos syndrome classic type (formerly Types I-III), which is characterized by joint hypermobility and susceptibility to injury/arthritis, skin and vascular problems (including easy bruising, bleeding, varicose veins and poor tissue healing), cardiac mitral valve prolapse, musculo-skeletal problems (myopathy, myalgia, spinal scoliosis, osteoporosis), and susceptibility to periodontitis. No treatment is currently available for this disorder. The novel aspect of this proposal is based on: (i) increasing scientific evidence that nutrition may be a major factor in the pathogenesis of many disorders once thought to result from defective genes alone; (ii) the recognition that many of the symptoms associated with Ehlers-Danlos syndrome are also characteristic of nutritional deficiencies; (iii) the synergistic action within the body of appropriate combinations of nutritional supplements in promoting normal tissue function. We therefore hypothesize that the symptoms associated with Ehlers-Danlos syndrome may be successfully alleviated using a specific (and potentially synergistic) combination of nutritional supplements, comprising calcium, carnitine, coenzyme Q(10), glucosamine, magnesium, methyl sulphonyl methane, pycnogenol, silica, vitamin C, and vitamin K, at dosages which have previously been demonstrated to be effective against the above symptoms in other disorders.
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PMID:A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements. 1560 55

The superfamily of G protein-coupled receptors (GPCRs) contains immense structural and functional diversity and mediates a myriad of biological processes upon activation by various extracellular signals. Critical roles of GPCRs have been established in bone development, remodeling, and disease. Multiple human GPCR mutations impair bone development or metabolism, resulting in osteopathologies. Here we summarize the disease phenotypes and dysfunctions caused by GPCR gene mutations in humans as well as by deletion in animals. To date, 92 receptors (5 glutamate family, 67 rhodopsin family, 5 adhesion, 4 frizzled/taste2 family, 5 secretin family, and 6 other 7TM receptors) have been associated with bone diseases and dysfunctions (36 in humans and 72 in animals). By analyzing data from these 92 GPCRs, we found that mutation or deletion of different individual GPCRs could induce similar bone diseases or dysfunctions, and the same individual GPCR mutation or deletion could induce different bone diseases or dysfunctions in different populations or animal models. Data from human diseases or dysfunctions identified 19 genes whose mutation was associated with human BMD: 9 genes each for human height and osteoporosis; 4 genes each for human osteoarthritis (OA) and fracture risk; and 2 genes each for adolescent idiopathic scoliosis (AIS), periodontitis, osteosarcoma growth, and tooth development. Reports from gene knockout animals found 40 GPCRs whose deficiency reduced bone mass, while deficiency of 22 GPCRs increased bone mass and BMD; deficiency of 8 GPCRs reduced body length, while 5 mice had reduced femur size upon GPCR deletion. Furthermore, deficiency in 6 GPCRs induced osteoporosis; 4 induced osteoarthritis; 3 delayed fracture healing; 3 reduced arthritis severity; and reduced bone strength, increased bone strength, and increased cortical thickness were each observed in 2 GPCR-deficiency models. The ever-expanding number of GPCR mutation-associated diseases warrants accelerated molecular analysis, population studies, and investigation of phenotype correlation with SNPs to elucidate GPCR function in human diseases.
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PMID:The role of GPCRs in bone diseases and dysfunctions. 3164 11