hydroxylysine and Collagen-Diseases

Topics: C-Peptide; Chemical Phenomena; Chemistry; Collagen; Collagen Diseases; Copper; Ehlers-Danlos Syndrome; Genetic Variation; Humans; Hydroxylysine; Marfan Syndrome; Menkes Kinky Hair Syndrome; Mutation; Osteogenesis Imperfecta; Phenotype; Procollagen; Protein Biosynthesis; Protein-Lysine 6-Oxidase; Transcription, Genetic

In inflammatory granuloma, synovial sclerosis or inflammation and in Dupuytren's contracture, the neocollagen contains chains and/or transverse links that are characteristic of rapidly growing immature tissues. In arthrosis, a conversion of collagen synthesis towards a cutaneous type may occur. The destruction of cartilage in rheumatoid arthritis is brought about by a specific collagenase that originates from the inflamed synovial membrane. Finally, certain forms of osteoporosis may be due to alterations of the osseous collagen which impair the mechanism of calcification.

Topics: Animals; Arthritis, Rheumatoid; Bone Diseases; Cartilage, Articular; Collagen; Collagen Diseases; Dupuytren Contracture; Fibroblasts; Granulation Tissue; Granuloma; Humans; Hydroxylysine; Microbial Collagenase; Osteitis Deformans; Osteoarthritis; Osteoporosis; Protein Conformation; Rheumatic Diseases; Sclerosis; Synovial Membrane; Synovitis

Topics: Adolescent; Chemical Phenomena; Chemistry; Collagen; Collagen Diseases; Complement C1; Ehlers-Danlos Syndrome; Female; Humans; Hydroxylysine; Infant; Ketoglutaric Acids; Lysine; Mixed Function Oxygenases; Phenotype; Solubility

Topics: Animals; Ascorbic Acid; Bacteria; Bone Diseases; Chemical Phenomena; Chemistry; Collagen; Collagen Diseases; Endocrine System Diseases; Glycosides; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Isomerism; Peptide Hydrolases; Plants; Polyribosomes; Procollagen-Proline Dioxygenase; Proline; Protein Precursors

The excretion of the two hydroxylysine glycosides hydroxylysine-galactose-glucose and hydroxylysine-galactose was studied in the urine of normal healthy and experimental rats chronically treated with collagen-like syndrome inductors, hydralazine or binazine. The elevated urinary hydroxylysine-galactose-glucose and hydroxylysine-galactose strongly suggests an altered rate of collagen degradation during induced collagen-like syndrome.

Topics: Animals; Collagen; Collagen Diseases; Glycosides; Hydralazine; Hydroxylysine; Male; Neutrophils; Rats; Rats, Inbred Strains; Syndrome; Todralazine

Topics: Collagen; Collagen Diseases; Ehlers-Danlos Syndrome; Extracellular Space; Genes; Humans; Hydroxylysine; Hydroxyproline; Osteogenesis Imperfecta; Procollagen; Protein Biosynthesis; RNA, Messenger

1. A new, quick, sensitive and specific assay for the quantitative determination of proline is presented together with its automatization. The use of glacial acetic acid-formaldehyde as the solvent for ninhydrin lends a series of advantages to the reaction. 2. A serial automated procedure for the simultaneous detection of proline, hydroxyproline and hydroxylysine in one single sample is pesented. The advantage of the triple assay lies in the use of one single sample instead of three previously aliquoted fractions in three individual automated assays. The triple assay is as specific, reproducible and sensitive as the individual assays. 3. A quick, manual assay for hydroxylysine is presented. This method represents a further simplifiction of previous ones by the same author and adds the advantage of rapidity to their sensitivity and specificity.

Topics: Adolescent; Adult; Age Factors; Aged; Autoanalysis; Child; Child, Preschool; Citrates; Collagen Diseases; Humans; Hydroxylysine; Hydroxyproline; Infant; Middle Aged; Phosphates; Proline; Work Simplification

Topics: Aging; Animals; Colchicine; Collagen; Collagen Diseases; Ehlers-Danlos Syndrome; Glucosyltransferases; Growth; Homocystinuria; Humans; Hydroxylysine; Hydroxyproline; Marfan Syndrome; Menkes Kinky Hair Syndrome; Penicillamine; Procollagen; Procollagen-Proline Dioxygenase; Protein Biosynthesis; Protein-Lysine 6-Oxidase; Scurvy; Skin; Transcription, Genetic; Vascular Diseases

Topics: Bone Diseases; Collagen; Collagen Diseases; Female; Humans; Hydroxylysine; Hydroxyproline; Inflammation; Liver Diseases; Male; Sex Factors; Skin Diseases; Thyroid Diseases

Ataxia telangiectasia has been associated with varying clinical and laboratory abnormalities of the cutaneous, immune, neurological, and endocrine systems. Recently, a primary defect in tissue differentiation has been proposed as a probable cause of the disease. The presence of biochemically abnormal collagen in the skin of two siblings with the disease may further support this hypothesis.

Topics: Amino Acids; Ataxia Telangiectasia; Collagen; Collagen Diseases; Female; Humans; Hydroxylysine; Immunologic Deficiency Syndromes; Skin

Two sibs with the Ehlers-Danlos syndrome, one of whom was shown to have hydroxylysine-deficient collagen, are described. In addition to the usual features of the Ehlers-Danlos syndrome (loose-jointedness and excessively stretchable, fragile, and bruisable skin), these patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment. This combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI. The condition is inherited as an autosomal recessive. The activity of lysyl hydroxylase was present at a reduced level in fibroblasts cultured from the patient's skin.

Topics: Chromosome Aberrations; Chromosome Disorders; Collagen Diseases; Ehlers-Danlos Syndrome; Female; Fibroblasts; Genes, Recessive; Humans; Hydroxylysine; Ketoglutaric Acids; Lysine; Male; Middle Aged; Mixed Function Oxygenases; Pedigree; Procollagen-Proline Dioxygenase

Topics: Collagen; Collagen Diseases; Humans; Hydroxylysine; Lysine; Proteins

Reducible compounds that participate in crosslinking were analyzed in hydroxylysine-deficient collagens of patients with a heritable disorder of connective tissue. After treatment with [(3)H]sodium borohydride, new compounds, as well as a totally different pattern of tritiated compounds, were found in hydroxylysine-deficient collagen from skin as compared with age-matched controls. The amount of desmosines detected indicated that more elastin was present in abnormal skin than in control skin.Bone collagen, which was not as deficient in hydroxylysine as skin collagen, had the same compounds as normal bone collagen, but their relative proportions were altered, consistent with a deficiency of hydroxylysine, a precursor of the crosslinks. Although the content of hydroxylysine in collagen of cartilage is essentially normal in these patients, analysis after reduction revealed a different pattern of reduced compounds from that of normal cartilage. It is speculated that Type II collagen, the major collagen component in cartilage, contains a normal amount of hydroxylysine, while Type I collagen, which is the major source of the crosslinks, is hydroxylysine-deficient. This distribution would explain the findings of an abnormal profile of reducible compounds despite an almost normal total hydroxylysine content. The finding that the deficiency of hydroxylysine in the collagen of these patients is accompanied by changes in number, chemical nature, and, probably, distribution of crosslinkages, and the previously reported alterations in the solubility characteristics, suggest that at least some skeletal and connective tissue abnormalities are directly related to underlying molecular pathology.

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Borohydrides; Cartilage; Collagen; Collagen Diseases; Humans; Hydrolysis; Hydroxylysine; Lysine; Oxidation-Reduction; Skin; Tritium

Topics: Adult; Age Factors; Animals; Biopsy; Blood Coagulation Disorders; Blood Platelet Disorders; Collagen; Collagen Diseases; Female; Guinea Pigs; Humans; Hydroxylysine; Hydroxyproline; Lysine; Molecular Conformation; Platelet Adhesiveness; Proline; Scurvy; Skin; X-Ray Diffraction

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Cartilage; Child; Collagen; Collagen Diseases; Fascia; Female; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Microscopy, Electron; Pedigree; Scoliosis; Skin; Skin Diseases; Solubility; X-Ray Diffraction

Topics: Amino Acid Metabolism, Inborn Errors; Collagen; Collagen Diseases; Disaccharides; Galactose; Glucose; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Skin; Skin Diseases

Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Collagen Diseases; Female; Humans; Hydroxylysine; Infant