Archive of Journal
Volume 70, Issue 10, Oct. 2014

STUDY OF CYP2D6 POLYMORPHISM IN PARKINSONS AND CONTROL SUBJECTS FROM INDIA

Volume 70, Oct 2014

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Abstract: Parkinsons disease (PD) is the second most common neurodegenerative disorder next to Alzheimers disease. It accounts for about 0.2 to 1% of the age of 65 ? 69 and raises to 1 ? 2% of the age of 80 and above. It is mainly characterised by the involvement of the four classical symptoms - tremor, bradykinesia, postural instability and the rigidity. It may be due to the cause of the environmental toxins and also due to the genetic factors. There is high relationship for the PD with the environmental toxins. The enzyme CYP2D6 is one which acts on the chemical 1-methyl-4-phenyll, 2,3,6- tetrahydropyridine (MPTP), 1,2,3,4-tetrahydroisoquinoline (TIQ) and many other neurotoxins that cause the PD. An exciting possibility is that chemical transformation to produce PD toxin in the course of the detoxification mediated by CYP2D (cytochrome P450). The CYP2D comprises many isoenzymes which are involved in the metabolism of exogenous and endogenous toxins. The CYP2D subfamily comprise of genes which are highly specific for the debrisoquine- 4 hydroxylase activity. In this, the CYP2D6 is widely studied polymorphism. In the present study, we analyzed this CYP2D6*4 polymorphism in both the PD cases and controls using polymerase chain reaction (PCR) and Restriction Fragment Length polymorphism (RFLP). Bearers of the CYP2D6 gene variants may be classified as the extensive metabolizers (EM) and poor metabolizers (PM). PM allele carriers have lower gene activity and they are more prone to the environmental toxins. In this study we determined the CYP2D6*4 allele in both PD and control to evaluate the relation of this allele with the PD.

Author(s): Padmaja M.V., Kifayathullah L., Srinivasan A.V., Ramesh A.

Genetic Disorders in Syria

Volume 70, Oct 2014

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Abstract: In Syria, several genetic disorders, including ?-thalassemia, familial Mediterranean fever (FMF), glucose-6-phosphate dehydrogenase deficiency, sickle-cell disease, hemophilia, inborn errors of metabolism, are common. Familial Mediterranean fever (MEFV) gene mutations and the genotype?phenotype correlation were investigated. The carrier rate in the Syrian population for MEFV mutations is 17.5%. The most frequent mutation was M694V, followed by V726A, E148Q, M680I (G/C), and M694I mutations. Rare mutations (R761H, A744S, M680I (G/A), K695R, P369S, F479L and I692del) were also detected in the patients. M694V was associated with the severe form of the disease. ?-Thalassemia is endemic in Syria. The prevalence rate of ?-thalassemia trait in high risk groups is 7% (1-1.5 million carriers) and the estimated number of affected patients is 7785. The various beta-thalassemia mutations are being characterized. Moreover, rare genetic disorders (such as cystic fibrosis) are also being investigated. Premarital carrier screening and prenatal diagnosis is offered to the affected families in order to prevent those genetic disorders.

Author(s): Jarjour RA

COTTON LEAF REDDENING AND EFFECT ON COTTON YIELD

Volume 70, Oct 2014

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Abstract: The leaf reddening of Gossypium spp was first reported in southern Pakistan (Sindh) in 2001. The symptoms appeared with yellowing of leaves and then turned to red at adult plant stage. The seedcotton and lint yield (kg/ha) were decreased upto 27% and 30% respectively in Distt: Sanghar and Mirpurkhas. The collection of germplasm/strains and, local/commercial varieties of cotton showed varying response for leaf reddening screening. It was not genetical but it was rather due to complex factors associated with drought conditions. The application of foliar spray of essential macro and micro nutrients K, Zn, Mg and B did not exhibit visible symptoms. However, leaf analysis showed the partly reddening of leaves in control treatments due to the deficiencies of K and Zn nutrients.

Author(s): M. M. KANDHRO, S. LAGHARI, H.M. AHMED, S. ABRO, N. DEPAR

Chemotherapy Induce Genomic Instability in Breast Cancer Patients

Volume 70, Oct 2014

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Abstract: A total of 369 peripheral blood samples were collected from 123 de novo breast cancer patients (Tawam Hospital). Cancer tissues resected from those patients have been collected for mismatch repair proteins (MMR) expression analysis. Multiplex as well as single PCR reactions were conducted to amplify 5 loci on chromosomes 1, 2, 10 and 17 (Bat-26, Bat-40, MFD-41, TP53-Alu and MFD-28.CA). 84 patients out of the total cohort of 123 breast cancer patients tested positive, including 23 patients marked as high-positive MSI and 61 patients marked as low-positive MSI, 44 patients exhibited LOH in addition to MSI, while 39 patients tested negative to all markers and were reported to be microsatellite stable (MSS). Among the positive patients the following MSI and/or LOH incidence rates were detected; 40.47% positive for TP53-Alu (n=34), 32.14% positive for MFD-41 (n=27), 26.19% positive for MFD-28. CA (n=22), and 4.76% positive for Bat-26 (n=4). Higher occurrence of LOH has been noticed in TP53-Alu at allele no.397 and no. 404 which are located within a tumor suppressor gene (TP53). Immunohistochemistry results for detection of MMR proteins showed that 18% of the collected tissues tested negative for the hMSH-2 expression. Results showed a significant incidence of MSI and LOH in 3 out of the 5 tested markers (TP53-Alu, MFD-41 and MFD28.CA), and it was detected in higher frequency in TP53-Alu which may cause a loss of function of suppressor p53, which lead to a higher possibility of cancer formation. Periodic screening of the described markers and assessment of evident MSI and LOH of the relevant loci, especially on tumor suppressor genes will lead to an early detection of subsequent generation of secondary cancers.

Author(s): Kamat N, Rannug U, Khidhir M

Comparing Effects of Hypolimnetic Hypoxia on Yellow Perch and Rainbow Smelt Habitat Suitability in Central Lake Erie

Volume 70, Oct 2014

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Abstract: Recent increases in the extent and duration of hypoxia in Lake Eries central basin potentially threaten the production of economically and ecologically valuable fish species, such as yellow perch (Perca flavescens) and rainbow smelt (Osmerus mordax). We used limnological hindcasts (1987-2005) to evaluate the negative effects of hypoxic conditions on yellow perch and rainbow smelt habitat quality. We generated spatio-temporally explicit estimates of bioenergetic growth rate potential (GRP) to identify inter-annual variability in the quality of yellow perch and rainbow smelt habitat. We expected hypoxia to have a greater negative impact on habitat quality for rainbow smelt compared to yellow perch due to species-specific differences in oxygen and temperature tolerances. Indeed, yellow perch demonstrate positive GRP values across a broader range of depths than rainbow smelt, which are less tolerant of warm, epilimnetic water temperatures and low, hypolimnetic dissolved oxygen levels. To assess whether hypoxia appears to have any population-level effects on recruitment of both species, we related annual indices of habitat quality to fisheries independent estimates of year-class strength and recruitment to the fishery.

Author(s): AREND K., HOOK T., LUDSIN S.A., RUCINSKI D.K., BELETSKY D., DEPINTO J.V., SCAVIA D., SCHWAB D.J.