Fibroblasts, cultured skin

Moy LS, Howe K, Moy RL (1996) Glycolic acid modulation of collagen production in human skin fibroblast cultures in vitro. Dermatol Surg 22(5) 439-441... 

The second methodologic consideration relates to the type of cells which are used as controls for the biochemical determinations. While less a problem now, there was a tendency in some early investigations to use cultured skin fibroblasts or similar cells as controls for the cultured amniotic fluid cells. 

Moysan, A., Marquis, I., Gaboriau, F., Santus, R., Dubertret, L. and Morliere, P. (1993). Ultraviolet A-induced lipid peroxidation and antioxidant defence systems in cultured skin fibroblasts. J. Invest. Dermatol. 100, 692-698. 

Defects have been found in these mechanisms that cause various human diseases. For example, patients with the genetic disease xeroderma pigmentosum are especially sensitive to ultraviolet light and develop skin cancer. Skin fibroblasts cultured from these patients have been shown to be defective in DNA repair. 

The diagnosis of lysosomal disorders is usually based on enzymatic assays in white blood cells or cultured skin fibroblasts [ 1 ]. Molecular studies required for identification of carriers. Initial diagnosis of peroxisomal disorders... 

Defects of the Krebs cycle. Fumarase deficiency was reported in children with mitochondrial encephalomyop-athy. Usually, there is developmental delay since early infancy, microcephaly, hypotonia and cerebral atrophy, with death in infancy or early childhood. The laboratory hallmark of the disease is the excretion of large amounts of fumaric acid and, to a lesser extent, succinic acid in the urine. The enzyme defect has been found in muscle, liver and cultured skin fibroblasts [16]. 

Werth, V. P., Bashir, M. M., and Zhang, W., IL-12 Completely Blocks Ultraviolet-Induced Secretion of Tumor Necrosis Factor alpha from Cultured Skin Fibroblasts and Keratino-cytes, J. Invest. Dermatol. 120, 116-122, 2003. 

Van Veldhoven, P.P. and Mannaerts, G.P., 1994, Sphinanine 1-phosphate metabohsm in cultured skin fibroblasts evidence for the existence of a sphingosine phosphatase, Biochem. J. 299 597-601. 

Schmidt-Sommerfeld E, Bobrowski PJ, Penn D, Rhead WJ, Wanders RJA, Bennet MJ (1998) Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. Pediatr Res 44 210-214... 

Diagnosis of HCS deficiency can be made by showing multiple carboxylase deficiency in skin fibroblasts cultured in low biotin medium but normal or clearly higher activities in high biotin medium [2, 30]. 

Polarographic studies can also be used to screen for much more specific defects suspected in some patients, such as impaired mitochondrial glutamate transport in cultured skin fibroblasts from patients presenting with neonatal myoclonic epilepsy [64]. 

All of the above-mentioned patterns are specific for the particular disease. The method is suitable as an initial screen to identify those patients in whom such a disorder must be excluded. The diagnosis must then be confirmed by enzyme analysis in serum, leucocytes or cultured skin fibroblasts or by way of mutation analysis. 

Cells Lymphoblasts or primary skin fibroblasts cultured for 4-7 days in lipoprotein-depleted medium, harvested by centrifugation and used fresh or after storage as pellets at - 18°C or lower. The minimum amount required for analysis is = 1.10 cells. 

Honda M, Tint GS, et al (1996) Measurement of 3/ -hydroxysteroid A7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate a new method for the diagnosis of the Smith-Lemli-Opitz syndrome. J. Lipid Res 37 2433-2438... 

Kelley RI (1995) Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236 45-58... 

Bradbeer, J. N., Virdi, A. S., Serre, C. M., Beresford, J. N., Delmas, P. D., Reeve, 1., and Triffitt, 1. T. 1994. A number of osteocalcin antisera recognize epitopes on proteins other than osteocalcin in cultured skin fibroblasts Implications for the identification of cells of the osteoblastic lineage in vitro. J. Bone Miner. Res. 9 1221-1228. 

Peterson C. and Goldman J. E. (1986). Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer donors. Proc. Natl. Acad. Sci. USA 83 2758-2762. 

Peterson C., Gibson G. E., and Blass J. P. (1985). Altered calcium uptake in cultured skin fibroblasts from patients with Alzheimer s disease. New Eng. J. Med. 312 1063-1069. 

G2. Geromel, V., Kadhom, N., Cebalos-Picot, I., Ouari, O., Polidori, A., Munnich, A., Rotig, A., and Rustin, P, Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring die neurogenic ataxia retinitis pigmentosa (NARP) mutation in file ATPase-6 gene of file mitochondrial... 

L15. Luo, X., Pitkanen, S., Kassovaka-Bratinova, S., Robinson, B. H., and Lehotay, D. C., Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with Complex I deficiency. J. Clin. Invest. 99, 2877-2882 (1997). 

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