Mutation Screening of Modifying Genes (Atox1 and Commd1) in Association with Wilson Disease.

Wilson disease (WD) results from accumulation of copper and is caused due to mutations in ATP7B, a copper transporting ATPase. Although WD is an established monogenic disorder, heterogeneity in phenotype is observed even among patients harboring mutations in ATP7B that would affect the mutant protein similarly. Such observations led to the speculation that there might be modifying loci that modulate the phenotype resulting from the aberration in the ATP7B gene. The expected genes coding for proteins that interact either directly with ATP7B or influence it indirectly might fit the role of modifier locus. ATOX1 and COMMD1 are the candidate genes that might play the role of a modifier locus having copper homeostasis pathway with such potential. To understand the role of modifying genes, we screened ATOX1 and COMMD1, a gene implicated in canine copper toxicosis, in 45 WD patients along with 50 healthy controls. This study did not yield satisfactory results concluding more patients to be analyzed. Keywords: Wilson Disease, ATOX1, COMMD1.

Significance of the k-ras gene codon 12 point mutation in stomach cancer in southern India.

The frequency and clinicopathologic significance of the K-ras gene point mutation in stomach cancer remain to be defined. We investigated the frequency of K-ras codon 12 point mutations in stomach cancer using a polymerase chain reaction (PCR)-based method in 94 samples and 100 age and sex matched controls. The overall frequency of K-ras codon 12 point mutations in stomach cancer was 3.19% (3/94). DNA sequencing of three cases with K-ras codon 12 point mutations identified a single-base substitution of GGT to GTT (glycine to valine) .Two of them were in heterozygous condition and one was in homozygous condition. Conclusions: K-ras codon 12 point mutations are uncommon in stomach cancer (3.19%) in Southern India.

Evaluation of risk factors for gastric cancer.

Gastric cancer is one of the most commonly diagnosed malignancies and remains an important cause of mortality. Several factors are suspected to play a role in gastric carcinogenesis which include diet, genetic factors, and infectious agents .In this study we evaluated the association between few epidemiological factors and gastric cancer risk .We have included 94 gastric cancer patients and 100 healthy age and sex matched controls in the study . Methods: Evaluation of association was based on frequency distribution of epidemiological variables in control and cancer groups. Results: Among the various factors analysed smoking (15.136; p<0.01) and alcohol consumption were found to be significantly associated (5.966 ; p<0.05) with gastric cancer. Conclusions: We conclude that smoking and alcohol consumption increase the risk of gastric cancer among the Indian population.