Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis. Its population incidence has been estimated at 1 per million in the United Kingdom, but it is likely to be higher in the Middle East and Gulf States. Affected individuals are asymptomatic in early childhood. Signs and symptoms of disease typically develop between three and eight years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations have not been reported in PPD. Cartilage appears to be the primary affected tissue, and in one patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis.

Enzymatic browning is one of the most important reactions that occur in fruits and vegetables, usually resulting in negative effects on color, taste, flavor, and nutritional value. The reaction is a consequence of phenolic compounds' oxidation by polyphenol oxidase (PPO), which triggers the generation of dark pigments. This is particularly relevant for apples, which are rich in polyphenols and highly susceptible to enzymatic browning. The objective of the present work was to quantify enzymatic browning and PPO activity and identify and quantify target polyphenols in apple [Malus ×sylvestris (L.) Mill. var. domestica (Borkh.) Mansf.] pulp in the cultivars (cvs.) Aori27, Elstar, Fuji, and Mellow at three fruit developmental stages (FDS). The enzymatic browning was quantified by tristimulus colorimetry; PPO activity was quantified by an enzyme–substrate spectrophotometric assay; phenolic compounds were determined and quantified by reverse-phase high-performance liquid chromatography–ultraviolet/visible–mass spectrometry. Enzymatic browning showed significant difference among cvs. and FDSs and interaction between both factors. PPO activity showed significant difference among cultivars and FDSs. A significant difference was evidenced for polyphenol content among cultivars and FDSs with interaction between both factors. Chlorogenic acid was the major phenolic compound in ‘Aori27’ and ‘Mellow’. In ‘Fuji’, chlorogenic acid and (–)-epicatechin were the major phenolics and in ‘Elstar’ (–)-epicatechin and procyanidin B2 were the major phenolics at different FDSs. The enzymatic browning showed high correlation to polyphenol content in all cultivars and high correlation was observed between browning and PPO activity in ‘Aori27’ and ‘Elstar’. The magnitude of the correlation between browning and polyphenols and PPO activity is genotype-specific. At the commercial harvest, ‘Fuji’ showed the highest polyphenol content and ‘Aori27’ showed the lowest level for enzymatic browning. Chemical names used: 3-(3,4-dihydroxycinnamoyl) quinic acid (chlorogenic acid), (–)-cis-3,3′,4′,5,7-pentahydroxyflavane (epicatechin), and cis,cis″-4,8″-Bi(3,3′,4′,5,7-pentahydroxyflavane) (procyanidin B2).

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Objective. To investigate the occurrence and clinical correlation of the arg519-to-cys mutation in the type 11 procollagen gene in patients with osteoarthritis (OA).Methods. Sixty-six subjects from 7 families with a strong family history of generalized OA and 13 patients with erosive OA were evaluated clinically and radiologically. Blood samples from 58 subjects in the familial OA