Displaying publications 1 - 20 of 734 in total

  1. Üreyen O, Üstuner MA, Argon A, Özbilgin M, Egeli T, Ìlhan E, et al.
    Malays J Pathol, 2018 Aug;40(2):153-160.
    PMID: 30173233
    INTRODUCTION: The aim of this study was to investigate the efficacy of resveratrol and octreotide, agents that are used to prevent intra-abdominal adhesions in experimental models, in preventing intraperitoneal adhesions when used alone or in combination.

    MATERIALS AND METHODS: The study employed 28 young female Wistar albino rats weighing 250-300 grams. An experimental adhesion model was created in each rat using serosal abrasion and peritoneal excision. They were divided into four groups, each comprising seven rats: Group 1, adhesion induction only; Group 2, resveratrol administration only; Group 3, octreotide administration only; and Group 4, administration of resveratrol and octreotide combination. The rats were monitored under appropriate conditions for 14 days and then underwent laparotomy. Macroscopic intensity and extensiveness of adhesions and microscopic changes in the granulation tissue (cellular intensity, reticular and collagen fibers, capillaries, elastic and smooth muscle fibers, fibrosis) were evaluated and graded. Kruskal-Wallis and Mann-Whitney U-test were used in statistical analysis and the level of statistical significance was established as p <0.05.

    RESULTS: There was no significant difference between the groups in terms of the intensity and extensiveness of macroscopic adhesions (p=0.377 and p=0.319). There was a statistically significant difference between the microscopic scores of the groups according to Zühlke's classification (p=0.026). The Bonferroni correction used to test for the differences revealed that the rats in Group 1 achieved significantly higher scores than the rats in Group 3 (p=0.016).

    CONCLUSION: Octreotide showed higher efficiency compared to the control group in microscopic classification; however, the two agents were not superior to each other or their combination was not superior in preventing intra-abdominal adhesions.

  2. Zyoud TYT, Abdul Rashid SN, Suppiah S, Mahmud R, Kabeer A, Abd Manaf R, et al.
    Malays J Pathol, 2020 Dec;42(3):423-431.
    PMID: 33361724
    INTRODUCTION: Post-mortem computed tomography (PMCT) provides information that helps in the determination of the cause of death and corpse identification of disaster victims. One of the methods for corpse identification includes assessment of the body stature. There is a lack of post-mortem imaging studies that focus on the anthropometric assessment of corpses. Our aim was to identify the relationship between cadaveric spine length and autopsy length (AL) among and autopsy length (AL) among a Malaysian population and derive a regression formula for the estimation of corpse body height using PMCT.

    MATERIALS AND METHODS: We retrospectively assessed 107 cadavers that had undergone conventional autopsy and PMCT. We made 5 measurements from the PMCT that included cervical length (CL), thoracic length (TL), lumbosacral length (LS), total column length of the spine, excluding the sacrum and coccyx (TCL), and ellipse line measurement of the whole spine, excluding the sacrum and coccyx (EL). We compared these anthropometric PMCT measurements with AL and correlated them using linear regression analysis.

    RESULTS: The results showed a significant linear relationship existed between TL and LS with AL, which was higher in comparison with the other parameters than the rest of the spine parameters. The linear regression formula derived was: 48.163 + 2.458 (TL) + 2.246 (LS).

    CONCLUSIONS: The linear regression formula derived from PMCT spine length parameters particularly thoracic and lumbar spine gave a finer correlation with autopsy body length and can be used for accurate estimation of cadaveric height. To the best of our knowledge, this is the first ever linear regression formula for cadaveric height assessment using only post mortem CT spine length measurements.

  3. Zulkufli NS, Jamaluddin FA, Tengku Yazid TN
    Malays J Pathol, 2020 Dec;42(3):385-394.
    PMID: 33361719
    INTRODUCTION: Ionised calcium is a good prognostic and diagnostic tool as opposed to total calcium in critical patients but is not available in most central laboratories and non-intensive care units. To date, four equations to calculate ionised calcium in critical patients have been published.

    OBJECTIVES: (1) Evaluate the four published equations' performance in estimating ionised calcium; (2) Determine the accuracy of calculated ionised and adjusted total calcium in classifying patients according to calcium states; and (3) Identify factors associated with hypocalcaemia in the critically ill population.

    MATERIALS AND METHODS: This is a cross-sectional study involving 281 critically ill patients aged 18-80 years of both genders in a Malaysian tertiary intensive care unit. Performance of the four equations was analysed using Bland-Altman difference plot and Passing Bablok regression analysis. Crosstabulation was conducted to assess classification accuracy. Mann-Whitney U or Pearson Chi-Square tests were performed to identify variables associated with hypocalcaemia.

    RESULTS: Calculated ionised calcium using all four equations significantly overestimated ionised calcium. Calculated ionised and adjusted total calcium had poor accuracies in classifying hypocalcaemic patients. pH was significantly higher in hypocalcaemics.

    CONCLUSION: Calculated ionised and adjusted total calcium significantly overestimate ionised calcium in the critically ill. In this specific population, calcium status should only be confirmed with ionised calcium measured by direct ion-selective electrode (ISE).

  4. Zulkarnaen M, Tang IP, Wong SL
    Malays J Pathol, 2012 Jun;34(1):53-5.
    PMID: 22870599 MyJurnal
    We present a case of a papillary tumour at the cerebellopontine angle in a 41-year-old man. He presented with left-sided facial and ear pain associated with dizziness, nystagmus and hearing loss. CT scan of the temporal bone showed a destructive tumour at the left cerebellopontine angle. Surgical excision was performed and the diagnosis of the endolymphatic sac tumour was made. Endolymphatic tumour is a low grade adenocarcinoma that originates from the endolymphatic sac. The definitive diagnosis requires a combination of clinical features, radiological finding and pathological correlation.
  5. Zhao Z, Takano A, Lim AST, Lim TH, Selvarajan S
    Malays J Pathol, 2020 Apr;42(1):115-119.
    PMID: 32342940
    INTRODUCTION: Alveolar rhabdomyosarcoma (RMS) usually occurs in adolescents and young adults, and most frequently arises in the extremities.

    CASE REPORT: We present a rare case of metastatic alveolar RMS from a nasal primary to cervical lymph nodes (LNs) in an elderly patient, diagnosed on the fine-needle aspiration (FNA) biopsy. Smears showed malignant round cells featuring focal rhabdoid appearance, with rhabdomyoblastic differentiation further supported by immunocytochemical stains. Diagnosis of alveolar RMS was confirmed by fluorescence in situ hybridization (FISH) identifying FOXO1 gene involvement with dual colour break-apart probes at locus 13q14.

    DISCUSSION: The differential diagnosis for a small round blue cell tumour in the elderly generally includes metastatic small cell carcinoma, lymphoma, malignant melanoma, RMS, desmoplastic small round cell tumour and Ewing's sarcoma/primitive neuroectodermal tumour. Subtle morphological analysis and expression pattern of immunostaining for skeletal muscle differentiation led to the diagnosis of RMS. Cytogenetic testing on the FOXO1 gene rearrangement helps definite subtyping of alveolar RMS.

  6. Zarina L, Hamidah A, Rohana J, Faraizah AK, Noryati AA, Jamal R, et al.
    Malays J Pathol, 2004 Jun;26(1):65-7.
    PMID: 16190109
    Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still needs to consider it as a probable diagnosis in a newborn with coagulopathy. We report here a case of Factor VII deficiency in a newborn who presented with subdural haemorrhage at day 4 of life.
  7. Zarina AL, Hamidah A, Yong SC, Rohana J, Hamidah NH, Azma RZ, et al.
    Malays J Pathol, 2007 Dec;29(2):107-11.
    PMID: 19108403 MyJurnal
    Transient abnormal myelopoeisis (TAM) is a haematological phenomenon commonly seen in newborns with Down syndrome. Although the majority show spontaneous resolution, this condition should not be dismissed too readily as there have been associated fatalities. Furthermore, even for those who do show spontaneous resolution, a significant percentage will develop acute megakaryoblastic leukaemia within the next few years of life. We report a series of four patients with TAM who presented with hepatosplenomegaly and leucocytosis detected on preliminary investigations.
  8. Zakiah I, Zaini AR, Jamilah B, Zawiah A
    Malays J Pathol, 1992 Dec;14(2):91-4.
    PMID: 1304630
    Over a three-year-period, 310 babies with prolonged jaundice admitted to GHKL were studied, to determine the incidence of alpha-1-antitrypsin deficiency as a cause of the problem. Ninety-two babies (29.7%) were found to be alpha-1-antitrypsin deficient. The percentage incidence was found to be highest in Indians (33.3%), followed by Malays (31.9%) and Chinese (26.7%). There was a male preponderance with a M:F ratio of 1.6:1. Most of these babies presented at the hospital at the age of more than two weeks but less than one month. Apart from the problem of prolonged jaundice and alpha-1-antitrypsin deficiency, 2 had associated bleeding problems, 11 associated infections and 3 respiratory problems. Two babies had clinical features of Down's syndrome, 2 had G6PD deficiency and 1 had congenital hypothyroidism. AST, ALT and ALPO4 were high in 20, 26 and 3 babies respectively.
  9. Zakariah NA, Bajuri MY, Hassan R, Ismail Z, Md Mansor M, Othman H, et al.
    Malays J Pathol, 2020 Apr;42(1):77-84.
    PMID: 32342934
    INTRODUCTION: Procalcitonin (PCT) has recently emerged as a marker for diagnosing infection. This study aimed to compare the performance of PCT and other infection markers in diagnosing infected diabetic foot ulcer (IDFU).

    MATERIALS AND METHODS: A total of 128 diabetic patients with foot ulcers were recruited and divided into two groups, consisting of 73 patients in the IDFU group and 55 in the non-infected diabetic foot ulcer (NIDFU). The severity of infection in IDFU patients was graded based on the Infectious Disease Society of America-International Working Group on the Diabetic Foot classification. Blood samples from all the patients were collected for measurement of PCT, high sensitivity C-reactive protein (hs-CRP) and white cell count (WBC). The area under the receiver operating curves (AUC) were then constructed and analysed.

    RESULTS: PCT, hs-CRP and WBC levels were significantly higher in the IDFU group compared to NIDFU with hs-CRP demonstrated the highest AUC (0.91; p <0.001) followed by PCT (0.814; p < 0.001) and lastly WBC (0.775; p < 0.001). The best cut off value, sensitivity and specificity for the presence of infection in diabetic foot, were 3.47 mg/dL, 80% and 89% for hs-CRP, 0.11 ng/ml, 70% and 87% for PCT and 11.8x109/L, 60% and 90% for WBC. All the infection markers showed significant positive correlations with infection severity of DFU.

    CONCLUSION: This study showed that hs-CRP is a more sensitive marker for diagnosing IDFU. Although PCT is useful in differentiating IDFU from NIDFU, the use of PCT is not necessary as it adds little value to the current practice.

  10. Zakaria NH, Sthaneshwar P, Shanmugam H
    Malays J Pathol, 2017 Dec;39(3):317-320.
    PMID: 29279597 MyJurnal
    Hypophosphataemia is a metabolic disorder that is commonly encountered in critically ill patients. Phosphate has many roles in physiological functions, thus the depletion of serum phosphate could lead to impairment in multiple organ systems, which include the respiratory, cardiovascular, neurological and muscular systems and haematological and metabolic functions. Hypophosphataemia is defined as plasma phosphate level below 0.80 mmol per litre (mmol/L) and can be further divided into subgroups of mild (plasma phosphate of 0.66 to 0.79 mmol/L), moderate (plasma phosphate of 0.32 to 0.65 mmol/L) and severe (plasma phosphate of less than 0.32 mmol/L). The causes of hypophosphataemia include inadequate phosphate intake, decreased intestinal absorption, gastrointestinal or renal phosphate loss, and redistribution of phosphate into cells. Symptomatic hypophosphataemia associated with haematological malignancies has been reported infrequently. We report here a case of asymptomatic severe hypophosphataemia in a child with acute T-cell lymphoblastic leukaemia. A 14-year-old Chinese boy was diagnosed to have acute T cell lymphoblastic leukaemia (ALL). His serum biochemistry results were normal except inorganic phosphate and lactate dehydrogenase levels. The serum inorganic phosphate level was 0.1mmol/L and the level was low on repeated analysis. The child had no symptoms related to low phosphate levels. The possible causes of low phosphate were ruled out and urine Tmp/GFR was normal. Chemotherapy regime was started and the serum phosphate levels started to increase. Hypophosphataemia in leukaemia was attributed to shift of phosphorus into leukemic cells and excessive cellular phosphate consumption by rapidly proliferating cells. Several reports of symptomatic hypophosphataemia in myelogenous and lymphoblastic leukaemia in adults have been reported. To our knowledge this is the first case of severe asymptomatic hypophosphataemia in a child with ALL.
  11. Zainuddin NM, Sthaneshwar P, Vethakkan SRDB
    Malays J Pathol, 2019 Dec;41(3):369-372.
    PMID: 31901925
    INTRODUCTION: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism.

    CASE REPORT: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet.

    CONCLUSION: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease.

  12. Zainol Rashid Z, Othman SN, Abdul Samat MN, Ali UK, Wong KK
    Malays J Pathol, 2020 Apr;42(1):13-21.
    PMID: 32342927
    INTRODUCTION: The World Health Organization (WHO) declared COVID-19 outbreak as a world pandemic on 12th March 2020. Diagnosis of suspected cases is confirmed by nucleic acid assays with real-time PCR, using respiratory samples. Serology tests are comparatively easier to perform, but their utility may be limited by the performance and the fact that antibodies appear later during the disease course. We aimed to describe the performance data on serological assays for COVID-19.

    MATERIALS AND METHODS: A review of multiple reports and kit inserts on the diagnostic performance of rapid tests from various manufacturers that are commercially available were performed. Only preliminary data are available currently.

    RESULTS: From a total of nine rapid detection test (RDT) kits, three kits offer total antibody detection, while six kits offer combination SARS-CoV-2 IgM and IgG detection in two separate test lines. All kits are based on colloidal gold-labeled immunochromatography principle and one-step method with results obtained within 15 minutes, using whole blood, serum or plasma samples. The sensitivity for both IgM and IgG tests ranges between 72.7% and 100%, while specificity ranges between 98.7% to 100%. Two immunochromatography using nasopharyngeal or throat swab for detection of COVID-19 specific antigen are also reviewed.

    CONCLUSIONS: There is much to determine regarding the value of serological testing in COVID-19 diagnosis and monitoring. More comprehensive evaluations of their performance are rapidly underway. The use of serology methods requires appropriate interpretations of the results and understanding the strengths and limitations of such tests.

  13. Zainol Abidin NZ, Sulong A, Alfizah H, Muttaqillah NA, Ding CH
    Malays J Pathol, 2015 Dec;37(3):227-32.
    PMID: 26712667 MyJurnal
    New Delhi metallo-β-lactamase-1 (NDM-1) is a relatively recent carbapenemase enzyme that inactivates all β-lactam antibiotics with the exception of aztreonam. This study aims to ascertain the baseline prevalence and antibiotic susceptibility patterns of NDM-1-producing Enterobacteriaceae in a tertiary medical center in Malaysia.
  14. Zainal NZ, Alauddin H, Ahmad S, Hussin NH
    Malays J Pathol, 2014 Dec;36(3):207-11.
    PMID: 25500521
    Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to hydrophic fetus due to haemoglobin Bart's disease. However in certain cases where unexplained hydrops fetalis occur in parents with heterozygous thalassaemia carrier,mutated α genes should be suspected. We report a twenty-nine year old woman in her third pregnancy with two previous pregnancies complicated by early neonatal death at 21 and 28 weeks of gestation due to hydrops fetalis. DNA analysis revealed the patient to have heterozygous (--SEA) α-gene deletion, while her husband has a compound heterozygosity for α(3.7) deletion and codon 59 (GGC → GAC) mutation of the α-gene. This mutation, also known as hemoglobin Adana, can explain hydrops fetalis resulting from two alpha gene deletions from the patient (mother) and a single alpha gene deletion with mutation from the father. The third pregnancy resulted in a grossly normal baby boy with 3 α-gene deletions (HbH disease). We postulate that, in view of heterogenisity of the α-thalassaemia in this patient with severely unstable haemoglobin Adana chains from her husband, there will be a 25% possibility of fetal hydrops in every pregnancy.
  15. Zain RB, Sakamoto F, Shrestha P, Mori M
    Malays J Pathol, 1995 Jun;17(1):23-30.
    PMID: 8907001
    Proliferating cell nuclear antigen (PCNA) is a well known marker for cell proliferation. It tends to accumulate in the late G1 and S-phase of the cell cycle. A monoclonal antibody (MoAb) against PCNA is now available and it can react with paraffin-embedded specimens. In the present study, PCNA immunohistochemical staining of 36 cases of oral cancer specimens obtained from surgery were investigated. The results showed differing nuclear staining patterns for PCNA in normal, hyperplastic and dysplastic epithelium, early cancer and 3 levels of differentiation for squamous cell carcinoma of the oral cavity. It appears that PCNA can be a useful marker in delineating normal epithelium and hyperplastic epithelium from dysplasia in the oral cavity. The use of PCNA staining may further emphasize the conventional histopathological grading of well-differentiated, moderately-differentiated and poorly-differentiated oral squamous cell carcinoma but is still dependent on basic criteria as observed without immunostaining. PCNA expression for all grades of squamous cell carcinoma are present at the deep, infiltrative margins.
  16. Zailani MAH, Raja Sabudin RZA, Abdul Rahman R, Mohd Saiboon I, Ismail A, Mahdy ZA
    Malays J Pathol, 2021 Aug;43(2):251-259.
    PMID: 34448789
    INTRODUCTION: The vast advancement of technology and breakthrough in high-tech disciplines created multiple areas of research activities, including the emergence of the medical drone. Malaysia, a rapidly developing country in Southeast Asia is on track to achieving high-income status. However, the stagnant growth of Malaysian maternal healthcare does not run parallel with the aspiration. This review paper assessed and reported narratively the current condition of maternal healthcare in Malaysia, the possible application of drones in improving the sector, exploring in detail several challenges, and providing recommendations for experts in studying the rising technological phenomena.

    MATERIALS AND METHODS: A literature search was done from June 2019 to November 2019 with restrictions to the English language. The search was performed in ScienceDirect, PubMed, and EMBASE databases, using a combination of search terms related to drones, Unmanned Aerial Vehicles (UAV), Unmanned Aerial Systems (UAS), maternal, obstetric, healthcare, medical products transportation and Malaysia. A discourse analysis followed and a narrative review was provided on this subject.

    RESULTS AND DISCUSSION: The validated ability of drones in the delivery of blood products is highlighted as a possible application in improving maternal healthcare in Malaysia, particularly in the state of Sabah. Five key challenges are identified: infrastructure, technicalities, regulations, expertise, and social acceptance. Future predictions of drone technology in healthcare were outlined with the suggestion of three principle arms of application.

    CONCLUSION: The usage of the medical drone in medical products transportation supports the objectives of WHO MDG 5 for Malaysian maternal health. A study on the impact of drones in reducing the maternal mortality ratio is recommended for further exploration.

  17. Zahari Sham SY, C Thambiah S, Samsudin IN, Lim SM
    Malays J Pathol, 2017 Dec;39(3):311-315.
    PMID: 29279596 MyJurnal
    Multiple myeloma is a type of plasma cell dyscrasia, characterised by presence of paraprotein or monoclonal (M)-protein in serum or urine. The M-protein may consist of an intact immunoglobulin, the heavy chain only or the light chain only. The latter, designated as light chain multiple myeloma (LCMM) makes up almost 20% of myelomas. Clinical manifestation is often heralded by hypercalcaemia, renal impairment, normocytic normochromic anaemia and bone lesions, reflecting end-organ damage, collectively known as the acronym CRAB. In particular, free light chain nephrotoxicity accounts for the high prevalence of renal impairment seen in LCMM. This case illustrates a typical presentation of LCMM with focal discussion on its initial and diagnostic, as well as prognostic biochemical investigations.
  18. Zahari Sham SY, Hanif E, Thambiah SC, Samsudin IN, Mohd Noor S, Osman M, et al.
    Malays J Pathol, 2021 04;43(1):33-40.
    PMID: 33903303
    INTRODUCTION: Cardiovascular disease (CVD) remains the leading cause of death in Malaysia. Identification of asymptomatic at-risk individuals is often achieved by means of a risk prediction algorithm. Traditional CVD risk factors and their associated algorithms are, however, limited by residual CVD risk. High sensitivity C-reactive protein (hsCRP) has emerged as a novel CVD risk factor. This study aimed to evaluate hsCRP as an adjunct CVD risk marker among the adult Malaysian population by determining its correlation with the Framingham Risk Score (FRS). Comparison analyses were done according to sociodemographic, clinical and laboratory factors and between subjects with and without Metabolic Syndrome (MetS).

    METHOD: This cross-sectional study involved eighty-three (n=83) adults attending a health screening program at Universiti Putra Malaysia (UPM). Demographic data, anthropometric measurements and blood samples for fasting blood glucose (FBG), fasting lipid profile (FSL), glycated haemoglobin (HbA1c) and hsCRP were taken. Respondents were grouped according to FRS and the Joint Interim Statement into 10-year CVD risk categories (low, intermediate and high) and MetS, respectively.

    RESULTS: hsCRP was significantly increased in patients with high body mass index (BMI) (p=0.001), at-risk waist circumference (WC) (p=0.001) and MetS (p=0.009). Spearman's correlation coefficient showed a significant positive correlation between hsCRP level and total FRS score (r=0.26, p<0.05) and HDL-C score (r=0.22, p<0.05).

    CONCLUSION: The significant difference of hsCRP levels across obesity levels and MetS with its modest correlation with FRS scores supported the adjunctive role of hsCRP in CVD risk prediction, most likely capturing the inflammatory pathological aspect and thus partly accounting for the residual CVD risk.

  19. Zabedah MY, Razak M, Zakiah I, Zuraidah AB
    Malays J Pathol, 2001 Dec;23(2):105-9.
    PMID: 12166590
    Solvent abuse is deliberate sniffing of an organic solvent for the intention of altering the physiological state of the individual. It is also commonly known as glue sniffing because glue is the most commonly abused substance. This form of substance abuse is widespread throughout the world and usually popular among secondary school children and young adults because of its easy availability and it is cheaper compared with most drugs of abuse. In Malaysia this problem has been recognized especially among the children in East Malaysia. In this study, 37 children and young adults from or around Kota Kinabalu, Sabah were referred to Bukit Padang Psychiatric Hospital by the Anti-drug Task force for suspected solvent abuse. These children were interviewed using questionaire and examined physically. Blood and urine were analysed for toluene and hippuric acid. 27 of the children, age ranging between 8 and 20 years, willingly admitted to sniffing glue for a period between a few months to 2 years. Most of them were children of Fillipino illegal immigrants in Kota Kinabalu. Biochemical parameters were found to be normal. Two of them were pale with low hemoglobin and 7 had eosinophilia. Haematuria and proteinuria were found in 21 children (78%). 16 blood samples with toluene levels ranging from 0.3 to 41 microg/ml and 10 urine samples have elevated urinary hippuric acid levels ranging from 1.2 to 7.4 mg/ml. Strong positive correlation was noted between mean blood toluene levels and duration of abuse.
  20. Yusnita Y, Norsiah MD, Rahman AJ
    Malays J Pathol, 2010 Dec;32(2):103-10.
    PMID: 21329181 MyJurnal
    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).
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