Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve to sixteen weeks following treatment of CF-1 mice with a vitamin A-deficient diet, characteristic signs of retinoid deficiency including body wasting, poor hair coat, altered gait, decreased mobility, and xerophthalmia were observed. Histological examination of tissue sections from these mice revealed dramatic changes in the urinary tract epithelium. The normal transitional epithelium was replaced by a stratified squamous epithelium that resembled hyperproliferative epidermis. Using two-dimensional gel electrophoresis, a number of new proteins were found to be synthesized in vitamin A-deficient bladder when compared to tissue from control bladders. Using antikeratin antibodies in immunoblot experiments, we found that at least some of the newly synthesized proteins were keratins. These proteins, which comprise the intermediate filaments of the cytoskeleton, are known to be specific markers of epithelial differentiation. Of particular interest was the appearance of a Mr 67,000 basic and Mr 61,000 acidic keratin pair, characteristic of terminally differentiating murine epidermal cells. Unexpectedly, several other keratins, previously associated only with hyperproliferative epidermis, were also expressed in the tissue. These results demonstrate that vitamin A deficiency in the mouse leads to the appearance of a squamous metaplasia in the urinary tract epithelium that is characterized by the expression of distinct epidermal keratins.
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PMID:Effect of retinoid deficiency on keratin expression in mouse bladder. 245 26

Infection of animal cells by a number of viruses generally results in an array of metabolic defects, including inhibition of host DNA, RNA, and protein synthesis, and morphological alterations known as cytopathic effects. For adenovirus infection there is a profound loss of cell structural integrity and a marked inhibition of host protein synthesis, the latter generally assumed necessary to enhance virus production. We examined the purpose of viral inhibition of cell translation and found that it was related in part to cytopathic wasting of infected cells. We show that viral shutoff of host translation promotes destruction of the intermediate filament network, particularly cytokeratins which are proteolysed at keratins K7 and K18 by the adenovirus late-acting L3 23-kDa proteinase. We found that if adenovirus is prevented from inhibiting cell translation, the intermediate filament network remains relatively intact, keratin proteins are still synthesized, and cells possess an almost normal morphological appearance and lyse poorly, reducing the release of nascent virus particles by several hundredfold. Remarkably, in tissue culture cells the accumulation of late viral structural proteins is only marginally reduced if host translation shutoff does not occur. Thus, a surprising major function for adenovirus inhibition of cellular protein synthesis is to enhance impairment of cellular structural integrity, facilitating cell lysis and release of progeny adenovirus particles.
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PMID:Adenovirus inhibition of cell translation facilitates release of virus particles and enhances degradation of the cytokeratin network. 751 Nov 74

Intramedullary dermoid cysts are rare tumors, especially those not associated with spinal dysraphism. Only six cases have been reported in the literature. Of these, only two cases have had magnetic resonance imaging studies. We report a case of an 18-year-old female patient, who presented with progressive weakness of both the lower limbs and wasting of both the upper limbs. Magnetic resonance imaging (MRI) showed an intramedullary lesion extending from C3 to D2 with peripheral enhancement on contrast. Decompression of the cystic contents with partial removal of cyst wall was done. Hair with oily cholesterol and keratin debris was encountered. Histopathology confirmed the diagnosis of dermoid cyst. This case adds to the previous reported cases of the rare and uncommon intramedullary space occupying lesions of the spinal cord.
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PMID:Dermoid cyst: A rare intramedullary inclusion cyst. 2287 Jan 57

The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1. DSG1 encodes desmoglein 1, a major constituent of desmosomes, which connect the cell surface to the keratin cytoskeleton and have a crucial role in maintaining epidermal integrity and barrier function. Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion. In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines. Our deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect.
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PMID:Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. 2397 71

A 7-year-old yellow-bellied slider exhibited anorexia, decreased activity, generalised wasting of skeletal muscles and oedema. Haematology examination revealed increased phosphorus and decreased calcium levels. During necropsy performed after spontaneous death, a focal nodular lesion containing tan amorphous material was found in the left kidney. Histopathology examination revealed multiple cystic lesions lined by a multilayered squamous, occasionally cuboidal, and containing keratin. Epithelial cells and keratin material were cytokeratin-positive. These findings confirmed a diagnosis of the most likely congenital intrarenal epidermoid cysts.
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PMID:A case report of intrarenal epidermoid cysts in a yellow-bellied slider (Trachemys scripta scripta). 2930 49

A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection. We sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma (PPK) revealed a single private protein-changing variant in the affected dog. This was located in the DSG1 gene encoding desmoglein 1. Heterozygous monoallelic DSG1 variants have been reported in human patients with striate palmoplantar keratoderma I (SPPK1), while biallelic DSG1 loss of function variants in humans lead to a more pronounced condition termed severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome. The identified canine variant, DSG1:c.2541_2545delGGGCT, leads to a frameshift and truncates about 20% of the coding sequence. The affected dog was homozygous for the mutant allele. The comparative data on desmoglein 1 function in humans suggest that the identified DSG1 variant may have caused the footpad hyperkeratosis and predisposition for allergies and skin infections in the affected dog.
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PMID:A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. 3234 23