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1.
Clin Genet ; 86(5): 482-6, 2014 Nov.
Article in English | MEDLINE | ID: mdl-24134185

ABSTRACT

The aim of our study was to assess the frequency of germline mutations and develop the genetic testing strategy in patients with apparently sporadic pheochromocytoma/paraganglioma (PPGL) in Korea. We included 53 patients diagnosed with non-syndromic PPGL without a family history of PPGLs in three referral centers from 2004 to 2011. Succinate dehydrogenase complex B (SDHB), SDHD, Von Hippel-Lindau (VHL), and rearranged during transfection (RET) genes were examined by direct sequencing and multiple ligation-dependent probe amplification. The study patients were composed of 26 men and 27 women, and mean age was 50.1 ± 13.5 years. The frequency of germline mutations was 13.2% (7/53): RET (n = 2), VHL (n = 1), SDHB (n = 2), and SDHD (n = 2). Six of seven mutation carriers were diagnosed before the age of 50. One of two patients harboring an SDHB mutation had malignant PPGLs. One patient with multifocal head and neck paraganglioma (PGL) and pheochromocytoma (PHEO) carried a SDHD mutation. The carriers of germline mutations in patients with apparently sporadic PPGL were 13.2% in our study. We recommend genetic testing in patients below 50 years and SDHD genetic testing in patients with multifocal PPGLs. In malignant PPGLs, SDHB genetic testing may be performed.


Subject(s)
Adrenal Gland Neoplasms/genetics , Adrenal Gland Neoplasms/pathology , Genetic Association Studies , Germ-Line Mutation/genetics , Paraganglioma/genetics , Pheochromocytoma/genetics , Pheochromocytoma/pathology , Adolescent , Adult , Aged , Female , Genetic Predisposition to Disease , Heterozygote , Humans , Male , Middle Aged , Paraganglioma/pathology , Proto-Oncogene Proteins c-ret/genetics , Republic of Korea , Succinate Dehydrogenase/genetics , Von Hippel-Lindau Tumor Suppressor Protein/genetics
2.
Biotechnol Bioeng ; 64(2): 232-9, 1999 Jul 20.
Article in English | MEDLINE | ID: mdl-10397859

ABSTRACT

Imprinted polymers were synthesized using a mixture of pigments, N-glutamyl-rubropuctamine, and N-glutamyl-monascorubramine (I) as the template, and 2-methacrylamido-6-picoline or 4-aminostyrene as functional monomers, to obtain recognition materials capable of forming hydrogen bonds and charge interactions, respectively, with carboxyl groups of target I in the binding sites. The polymers were prepared thermally at a template loading of 5 mol% using ethylene-glycol dimethacrylate or trimethylolpropane trimethacrylate as crosslinkers and acetonitrile or tetrahydrofuran as porogens. The selective binding of I to both types of polymer was demonstrated, although aminostyrene-based materials showed higher overall adsorption and were studied in more detail. It was shown that the kinetics of binding of I from ethyl-acetate extracts of fermented Monascus sp. was very rapid and virtually all the pigment adsorbed can be released by washing the polymer with ethanol-water mixtures. The feasibility of reusing imprinted polymer in consecutive adsorption/desorption cycles was also demonstrated. Copyright 1999 John Wiley & Sons, Inc.

3.
Biotechnol Bioeng ; 59(5): 576-81, 1998 Sep 05.
Article in English | MEDLINE | ID: mdl-10099374

ABSTRACT

When a Monascus isolate, a producer of Monascus pigments, was cocultured with either Saccharomyces cerevisiae or Aspergillus oryzae in a solid sucrose medium, there were significant morphological changes in Monascus culture. Cocultures exhibited cell mass increases of 2 times and pigment yield increases of 30 to 40 times compared to monocultures of Monascus. However, enhanced cell growth, an increase in pigment production, and morphological change did not occur in coculture with Bacillus cereus. Saccharomyces cerevisiae was more effective at enhancing pigment production than Asp. oryzae. Enhanced cell growth and increased pigment production occurred only in conjunction with morphological changes. Culture filtrates of S. cerevisiae were also effective in inducing morphology change in Monascus, similar to culture broths of S. cerevisiae. The hydrolytic enzymes produced by S. cerevisiae, such as amylase, and chitinase, are thought to be the effectors. The commercial enzymes alpha-amylase and protease from Asp. oryzae both caused a morphological change in Monascus and were effective in enhancing pigment production. However, lysozyme, alpha-amylase and protease from Bacillus species, protease from Staphylococcus, and chitinase from Streptomyces were not effective. The hydrolytic enzymes which cause a morphological change of Monascus culture and enhancement of pigment production are thought to be capable of degrading Monascus cell walls. An approximate 10-fold increase in pigment production was observed in liquid cocultures with S. cerevisiae. Copyright 1998 John Wiley & Sons, Inc.

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