Acrylonitrile ; toxicity ; Carcinogens ; toxicity ; Humans ; Mutagens ; toxicity ; Occupational Exposure

Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
Adolescent ; Cerebellar Ataxia ; Deafness ; DNA ; Female ; Humans ; Intellectual Disability ; Microcephaly ; Mutagens ; Quadriplegia ; Sexual Development ; Xeroderma Pigmentosum

BACKGROUND: Fanconi's anemia (FA) is an autosomal recessive disease characterized by aplastic anemia, pre-malignancy, congenital malformations and chromosome breakage syndromes. As up to 30% of patients have no detectable congenital anomalies, the modern diagnosis of FA rests on chromosomal breakage of patient's cells induced by chemical clastogens such as diepoxybutane (DEB) or mitomycin-C (MMC). METHODS: We have done chromosome breakage test to differentiate FA from 11 aplastic anemia, three Diamond-Blackfan syndrome, three myelodysplastic syndrome, one acute leukemia with congenital anomaly and three siblings of FA. The peripheral blood lymphocytes from each individual were co-cultured in phytohemagglutinin-containing medium by the three methods, i.e., DEB treated, MMC treated and un-treated. RESULTS: Five cases were found to have increased chromosomal breakages to DEB and MMC, confirming diagnosis of FA. Other 21 cases showed no increased chromosomal breakages. No overlap was found between FA group and others (P<0.01). In one FA, there was no increased spontaneous breakage, but increased breakage to DEB and MMC. Of five FA, one case showed no congenital anomalies. CONCLUSIONS: Chromosme breakage test was shown to be simple, reliable and useful in ascertaining the diagnosis of FA.
Anemia, Aplastic ; Chromosome Breakage* ; Diagnosis* ; Fanconi Anemia* ; Humans ; Leukemia ; Lymphocytes ; Mitomycin ; Mutagens ; Myelodysplastic Syndromes ; Siblings

Benzene ; poisoning ; DNA Damage ; DNA Repair ; genetics ; Deoxyguanosine ; analogs & derivatives ; genetics ; Humans ; Mutagens ; poisoning ; Poisoning ; genetics

INTRODUCTION: Chromosomal mutations are casual events in neoplasia development. Biomarker cytogenetic assays can determine exposure to mutagenic agents in occupational settings. This study assessed early biological marker chromosomal aberrations among health workers in the chemotheraphy oncology wards/ clinics, exploring its association to the subjects' occupational, environmental and baseline profile.
METHODS: This was an IRB approved cross-sectional exploratory study among hospital personnel working in the chemotherapy oncology facility of a tertiary government hospital, who underwent structured interview and blood extraction for cytogenetic assay after informed consent. Study funds only permitted assay of 44 specimens of 144 planned sample size, hence, Stata 6.0 only analyzed data from 44 subjects.
RESULTS: All 44 subjects had varying exposure to chemotherapy drug infusions. Of these, 79% had 1.0 breaks per cell (hypersensitive). Predominantly chromatid breaks (CTB), chromatid gaps (CTG), sister chromatid exhanges (SCE) were seen. No significant association was shown between mutagenic sensitivity and baseline characteristics, but with small sample size.
CONCLUSION: 21% borderline to hypersensitive mutagenic sensitivity among oncology workers at the tertiary government hospital is relatively significant, despite small sample size, connoting a must preventive promotive practice of chemotherapy administration in the workplace.

Human ; Male ; Female ; Chromosome Aberrations ; Chromosomes ; Drug Therapy ; Personnel, Hospital ; Cytogenetics ; Chromatids ; Mutagens

Sister chromatid exchange (SCE) has recently become a common cytogenic assay system for detecting exposure to chemical mutagens and carcinogens. One application of SCE is the monitoring of populations believed to have been exposed to such agents. A cross-sectional study of SCE frequency in peripheral blood lymphocytes from 45 Koreans aged 61 to 84 years was conducted. The effect of cigarette smoking and age on SCE was assessed by different degrees of smoking status such as smokers (n = 14), ex-smokers (n = 16) and non-smokers (n = 15). Mean spontaneous SCE per cell for the smokers (11.5 +/- 1.1) was significantly higher (p < 0.05) than that for the non-smokers (8.8 +/- 0.3). However, mean SCE frequencies per cell for the ex-smokers (10.3 +/- 0.6) were not significantly different from those of the smokers or the non-smokers. The smokers showed an increased number of high SCE frequency cells (HFCs) when compared to the ex-smokers and non-smokers (p < 0.05). The mean SCE frequencies of the non-smokers showed a statistically significant increase (p < 0.05) with the subject's age. These results show that age and smoking habits contribute a great deal in setting a higher degree of basal DNA damage in elderly Koreans, and smoking appeared to be a more significant damaging factor than age.
Aged* ; Carcinogens ; Cross-Sectional Studies ; DNA Damage* ; DNA* ; Humans* ; Lymphocytes* ; Mutagens ; Sister Chromatid Exchange ; Smoke* ; Smoking*

In the screening of marine mangrove derived fungi for lovastatin productivity, endophytic Aspergillus luchuensis MERV10 exhibited the highest lovastatin productivity (9.5 mg/gds) in solid state fermentation (SSF) using rice bran. Aspergillus luchuensis MERV10 was used as the parental strain in which to induce genetic variabilities after application of different mixtures as well as doses of mutagens followed by three successive rounds of genome shuffling. Four potent mutants, UN6, UN28, NE11, and NE23, with lovastatin productivity equal to 2.0-, 2.11-, 1.95-, and 2.11-fold higher than the parental strain, respectively, were applied for three rounds of genome shuffling as the initial mutants. Four hereditarily stable recombinants (F3/3, F3/7, F3/9, and F3/13) were obtained with lovastatin productivity equal to 50.8, 57.0, 49.7, and 51.0 mg/gds, respectively. Recombinant strain F3/7 yielded 57.0 mg/gds of lovastatin, which is 6-fold and 2.85-fold higher, respectively, than the initial parental strain and the highest mutants UN28 and NE23. It was therefore selected for the optimization of lovastatin production through improvement of SSF parameters. Lovastatin productivity was increased 32-fold through strain improvement methods, including mutations and three successive rounds of genome shuffling followed by optimizing SSF factors.
Aspergillus* ; Efficiency ; Fermentation* ; Fungi ; Genome* ; Humans ; Lovastatin* ; Mass Screening ; Mutagens ; Parents

Alkanes ; toxicity ; Animals ; Chromosome Aberrations ; Mice ; Mice, Inbred ICR ; Micronucleus Tests ; Mutagenicity Tests ; Mutagens ; Rats ; Rats, Sprague-Dawley ; Teratogens

OBJECTIVETo investigate the genotoxicity of bone cement.

MATERIAL AND METHODSTest article was mixed of liquid and the powder extract of bone cement. Using bacterial reverse mutation test (Ames test) and mouse lymphoma Assay (MLA) with and without metabolic activation S9. Ames test was performed by the plate incorporation method for its ability to induce reverse mutations in three treatment dosage groups: 25 microl/plate, 50 microl/plate, 100 microl/plate using S. typhimurium TA98, TA100, TA1535, TA1537 and E. coli WP2 uvrA; In MLA, the mutation frequency (MF) and the percentage of small colony mutants (SC%) of L5178 tk(+/-) cells induced by bone cement at final concentration of 0.125%, 0.25% and 0.5% (V/V) were calculated and assayed with +S9/3 h, - S9/3 h, -S9/24 h.

RESULTSSlight precipitations of two dosage group 50 microl/plate and 100 microl/plate were observed after phosphoric acid buffer solution or S9mix added. Growth inhibition effect exists in TA100, TA1535 and WP2 uvrA to varying degrees. Other groups did not cause obvious increases in the mean number of revertant per plate compared with negative control (DMSO). The result of MLA indicated no significant MF or SC% increases (P>0.05) observed comparing with negative control under all test conditions.

CONCLUSIONSThe bone cement did not induce reverse mutation at his(-)/trp(-) and there was no obvious damage effect to gene tk(+/-) or chromosome under this study condition.

Animals ; Bone Cements ; toxicity ; Cell Line, Tumor ; DNA Damage ; Mice ; Micronucleus Tests ; Mutagens ; toxicity ; Mutation ; Mutation Rate ; Salmonella

OBJECTIVETo investigate the protective effect of epigallocatechin gallate (EGCG) on mouse sperm in vivo.

METHODSA total of 64 six-week-old male Kuming mice were randomly divided into eight groups of equal number to be treated with normal saline (negative control), Cyclophosphamide (CP) at 30 mg/kg (positive control), and CP followed by EGCG (experimental) at 20, 40, and 80 mg/kg, respectively, given every other day for 10 days. At 4 and 5 weeks after treatment, the bilateral testes of the mice were harvested for examination of sperm abnormality.

RESULTSEGCG did not increase the rate of CP-induced sperm abnormality in the mice, but reduced it instead with the prolonged time of treatment.

CONCLUSIONEGCG protects mouse sperm in vivo.

Animals ; Catechin ; analogs & derivatives ; pharmacology ; Cyclophosphamide ; toxicity ; Male ; Mice ; Mutagens ; toxicity ; Random Allocation ; Spermatozoa ; drug effects ; Time Factors