Mitochondrial Subunit ND1 (mtND1) gene is involved in the first step of the electron transport chain of oxidative phosphorylation (OXPHOS). Alteration of the electron transport components by mutations in mtDNA may compromise the normal electron flow. This could lead to an increase of bifurcation and generation of superoxidase radicals and increase oxidative stress in various types of cancer cells. Genomic DNA was extracted from thirty matched primary colorectal tumour tissues and matching non-tumour tissues. Blood samples were obtained from twenty-five normal people. The mtNDI coding region was amplified by step-down PCR. The purified products were then subjected to direct sequencing and subsequently, the DNA sequences obtained were compared with the revised Cambridge Reference Sequence (rCRS) and MITOMAP. From the analysis, the mtND1 gene showed 11 (45.8%) different mutations and also 13 (54.2%) polymorphisms. The heteroplasmic mutation A4123A/G (I273I/V) might have a pathogenic significance as it fulfills various pathogenic criteria. Three mutations, T3394C (Y30H), A3434G (Y43C) and C3497T (A64V) which occur in a highly conserved region were likely to alter the structure and function of the ND1 protein. We suggest that these mutations, and in combination with the polymorphic variance in mtDNA, may cause slight changes that generate subtly higher levels of toxic reactive oxygen species (ROS).
A cross-sectional study was carried out to evaluate the nutritional status of 51 subjects with leukemia aged 4 to 12 years from the Haematology and Oncology Paediatric Ward, Universiti Kebangsaan Malaysia Medical Centre (PPUKM) and the Paediatric Institute of Kuala Lumpur. Nutritional status was assessed using anthropometric measurements, biochemical and haematological parameters. Subjects comprised 32 (62.7%) males and 19 (27.3%) females. Most of the subjects (41.2%) were in the age group of 4 to 6 years. More than half of the children were Malays (70.6%) followed by Indians (15.7%) and Chinese (13.7%). The subjects were diagnosed as acute lymphoblastic leukemia (ALL) (84.3%) followed by acute myelogenous leukemia (AML) (13.7%) and chronic myelogenous leukemia (CML) (2.0%) respectively. Most of the children were in remission status (54.9%). Underweight (
The quality of life of transfusion-dependent thalassaemia patients is affected by the disease itself and iron overload complications from repeated blood transfusion. Desferrioxamine has been used to remove the excess iron, resulting in decreased mortality and morbidity. In Malaysia, a significant proportion of the transfusion-dependent thalassaemia patients are not prescribed desferrioxamine, due to its high cost, especially as it is not subsidized by the government. The aim of this study was to measure the quality of life of thalassaemia patients on desferrioxamine treatment.
A 4-year-old boy presented with metastases in the spermatic cord and ribs 2 years after treatment for a primary medulloblastoma (MB). The testis was free of tumor. A MB presenting with a metastasis to the spermatic cord has not been reported to date. The role of a ventriculo-peritoneal shunt in promoting such spread should be considered in planning management.
Helicobacter pylori infection of a distinct subtype of cagA may lead to different pathological manifestation. The aim of this study is to determine the presence of cagA gene and its variants in H. pylori infection among different ethnic groups and its effect on gastroduodenal diseases. Overall detection of cagA among the 205 clinical isolates of H. pylori was 94%. Variations in size of the 3' region of cagA gene were examined among 192 Malaysian H. pylori cagA-positive strains. Results showed that three cagA variants differing in fragment length of PCR products were detected and designated as type A (621-651bp), type B (732-735bp) and type C (525 bp). Although there was no association between any of the cagA subtypes with peptic ulcer disease (p>0.05), an association between cagA subtypes with a specific ethnic group was observed. Specific-cagA subtype A strains were predominantly isolated from Chinese compared to Malays and Indians (p<0.0005), and cagA subtype B strains were predominantly isolated from Malays and Indians compared to Chinese (p<0.05). The cagA type A strains of H. pylori is commonly found in the Chinese patients who have a higher risk of peptic ulcer disease, thus indicating that it could be used as an important clinical biomarker for a more severe infection.