Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?
Published on: 9th June, 2021
Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.
Rapid and sensitive identification of cow and buffalo species and gender in tissue/meat samples impounded from different spots in Delhi NCR India by Real Time PCR
Published on: 12th January, 2022
OCLC Number/Unique Identifier: 9395225158
The objective of this study was to obtain a fast, accurate and reliable method of species identification of unknown biological samples for forensic applications, especially in illegal trade of animals as well as meat fraud. Meat fraud and adulteration not only affects the market but also increases the risk of religious and ethnic conflicts around the world [1]. In this study, species-specific and gender differentiating Real time PCR technique was employed to analyse 15 meat samples collected from a suspected site. Out of 15 samples collected from suspected site, 54% and 13% samples were of Cow and buffalo origin respectively. All 54% cow samples were of male while one each of buffalo were of male and female origin. Two samples were inconclusive. These findings indicated that species and gender-specific PCR is very sensitive and can be used for forensic species identification and the detection of meat fraud and adulteration.
Forensic analysis of raw meat adulteration using mtDNA
Published on: 29th December, 2022
Meat species identification has become essential with the increasing events of frauds like the illegal slaughter of cows, meat adulteration, and substitution. Food scam directly influences public well-being, trade, and wildlife. In Pakistan, donkey meat is used as adulterants for cow meat and is considered Haram in Islamic concepts. In this study PCR, based detection methods are used for identification purposes. The mitochondrial gene cytochrome b has been used in this study to identify the origin of meat specie. Specie-specific primers of cyt b of cow and donkey were used for identification. DNA from different binary ratios of cow and donkey meat was extracted by the phenol-chloroform method. Ratios were made from 1-10 and extracted DNA was subjected to PCR to amplify the target fragment of the cyt b gene. Primers were sensitive to identifying species origin in all meat ratios. Multiplex PCR was designed to identify both species and the results were analyzed by gel electrophoresis. Fragment size of 309bp for cow and 475bp for donkey was observed.Results of the current study conclude that PCR assays, including multiplex PCR, is efficient and has a high sensitivity for even small amount of meat. It is concluded that multiplex PCR is useful and reliable for adulterated meat detection.
Mesofractal Modeling of Biosystems & Organic Spintronics
Published on: 4th September, 2024
Mesoscopic modeling of complex systems involves thermodynamic nonequilibrium of discrete scaling. Further from quantum correlation on a chip retrieved quantum nonlinear optics with single photons enabled by strongly interacting atoms. Accompanied by mesofractals as the development of meso & micro size fractal structures is required to mimic various biological systems for various functions. Showed through fluorapatite in gelatin‐based nanocomposite, fractal in DNA knots driven by balance of fission & fusion in mtDNA/mitochondrial DNA mechanism, for optical engines for light energy detection described the proportional integral derivative [PI(D)]‐controller set in microbial cells to HCCI/Homogeneous Charge Compression Ignition.
Analyzing Maternal Inheritance of Mitochondrial DNA using PCR-RFLP
Published on: 12th May, 2025
Background & objectives: Mitochondrial DNA (mtDNA) contains valuable genetic information and plays a crucial role in missing person investigations, mass disasters, and forensic cases involving limited or degraded biological material. mtDNA is maternally inherited, with a highly variable control region divided into three hypervariable regions are generally used for forensic investigation. This study aimed to evaluate maternal inheritance patterns of mtDNA using PCR-RFLP techniques to confirm maternal relatedness. Method: The study was designed after prior permission from the institute’s ethical committee in which subjects were enrolled. This pilot study analyzed 50 voluntary participants (mother-child pairs). DNA was extracted from blood or saliva, and the mtDNA hypervariable region (HV region) was amplified by PCR using specific primers for the HV1 region. The amplified fragments (1024 bp) were subjected to RFLP analysis using seven restriction endonucleases (Alu I, BsuR I (Hae III), Hinf I, HsYF31 (Dde I), Mbo I, Rsa I, and SsPI) to reveal morphotypes. Results: The study identified five morphotypes for Alu I, three for BsuR I (Hae III) and Rsa I, two for Hinf I, and one each for HsYF31 (Dde I), Mbo I, and SsPI. There was minimal genetic polymorphism in the hypervariable region among unrelated individuals, but consistent restriction patterns were observed between mothers and their children in same pair. Conclusion: The findings demonstrate the low genetic polymorphism in the hypervariable region among unrelated individuals and consistent restriction patterns within maternal pairs, underscoring mtDNA's utility in forensic and genealogical applications.
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