Publications by authors named "Sasidharan K"

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global epidemic. MASLD has a strong genetic component, and a common missense variant (rs2642438) in the mitochondrial amidoxime-reducing component 1 (MARC1) gene confers protection against its onset and severity. However, there are contrasting results regarding the mechanisms entangling this protection.

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Objective: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global health concern with no effective and specific drug treatment available. The rs2642438 minor allele in mitochondrial amidoxime-reducing component 1 (MARC1) results in an aminoacidic substitution (p.Ala165Thr) and associates with protection against MASLD.

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Article Synopsis
  • Steatotic liver disease (SLD) is the most common chronic liver condition, but there's no approved treatment due to unclear causes.
  • Elevated levels of interleukin 32 (IL-32) are linked to severe SLD, with research showing that IL-32β increases fat synthesis in liver cells while reducing it when IL32 is decreased.
  • A genetic variant (rs76580947) of IL32 is associated with lower IL-32 levels and may offer protection against SLD, indicating that reducing IL32 could be a potential therapeutic approach.
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  • Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are rare disorders affecting sensory and autonomic neurons, making them hard to study due to limited data.
  • A large international study identified 80 new pathogenic variants in 73 families across known CIP/HSAN-related genes, expanding knowledge on these diseases.
  • Advanced methodologies like in silico predictions and metabolic tests improved variant classification, crucial for guiding future gene-specific treatments in clinical trials.
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  • Fatty liver disease (FLD) is increasingly recognized as a significant health concern with unresolved clinical challenges, having both genetic factors and unexplained heritability.
  • Research identifies a specific genetic variant (rs71519934) at the PSD3 gene that makes some individuals less susceptible to FLD through a protein change (L186T).
  • Reducing PSD3 levels in liver cells lowers fat content, and inhibiting this gene in mice protects against FLD, suggesting that targeting PSD3 could lead to new treatments for humans with FLD.
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A comparative study of existing junction-primer-designing software revealed many limitations among them. Hence, we developed a new computational program, Ex-Ex Primer, which offers many improved, user-friendly features, and reliably creates junction primers and probes. This online suite can also be used to design primers/probes from other sites of nucleic acid recombination, insertion, deletion, or splicing, and regular probes/primers.

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Background: Mother's milk is the best, and ideal method for infant feeding. We found that this practice was not being followed in our hospital. A survey was conducted in the unit with regards to breastfeeding practices which revealed that most babies who were discharged from our nursery were on formula supplements.

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Viruses rely on their host for reproduction. Here, we made use of genomic and structural information to create a biomass function capturing the amino and nucleic acid requirements of SARS-CoV-2. Incorporating this biomass function into a stoichiometric metabolic model of the human lung cell and applying metabolic flux balance analysis, we identified host-based metabolic perturbations inhibiting SARS-CoV-2 reproduction.

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  • Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are growing global health issues linked to a genetic risk factor (rs738409) that disrupts lipid processing in the liver, leading to complications such as liver fibrosis.* -
  • Research has identified the drug momelotinib, originally developed for myelofibrosis, as a potent down-regulator of this harmful genetic expression, showing significant reductions in liver cell mRNA levels in lab tests and animal models.* -
  • The drug's effectiveness is linked to changes in gene expression regulation, possibly altering chromatin accessibility, and suggests it could be a promising treatment option for various stages of NA
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Supernumerary kidney is one of the rarest congenital anomalies of the genito-urinary tract. Around 100 cases have been reported in the literature so far. Even rare is the fusion of a supernumerary kidney.

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Article Synopsis
  • * Researchers created a 3D organoid system made up of specific liver cells that are predisposed to NAFLD, demonstrating that these cells can accumulate fat and collagen when exposed to free fatty acids.
  • * This new in vitro model can help explore the molecular mechanisms of NAFLD and facilitate the discovery of new treatments for NASH through high-throughput drug screening.
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Objective: Nonalcoholic fatty liver disease (NAFLD) is becoming a leading cause of advanced chronic liver disease. The progression of NAFLD, including nonalcoholic steatohepatitis (NASH), has a strong genetic component, and the most robust contributor is the patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 encoding the 148M protein sequence variant. We hypothesized that suppressing the expression of the PNPLA3 148M mutant protein would exert a beneficial effect on the entire spectrum of NAFLD.

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Background And Aims: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.

Methods And Results: A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced.

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Background: The World Health Organization has categorized plague as a re-emerging disease and the potential for Yersinia pestis to also be used as a bioweapon makes the identification of new drug targets against this pathogen a priority. Environmental temperature is a key signal which regulates virulence of the bacterium. The bacterium normally grows outside the human host at 28 °C.

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A plethora of data is accumulating from high throughput methods on metabolites, coenzymes, proteins, and nucleic acids and their interactions as well as the signalling and regulatory functions and pathways of the cellular network. The frozen moment viewed in a single discrete time sample requires frequent repetition and updating before any appreciation of the dynamics of component interaction becomes possible. Even then in a sample derived from a cell population, time-averaging of processes and events that occur in out-of-phase individuals blur the detailed complexity of single cell organization.

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There is an increasing call for the absolute quantification of time-resolved metabolite data. However, a number of technical issues exist, such as metabolites being modified/degraded either chemically or enzymatically during the extraction process. Additionally, capillary electrophoresis mass spectrometry (CE-MS) is incompatible with high salt concentrations often used in extraction protocols.

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Conventional extraction protocols for yeast have been developed for relatively rapid-growing low cell density cultures of laboratory strains and often do not have the integrity for frequent sampling of cultures. Therefore, these protocols are usually inefficient for cultures under slow growth conditions or of non-laboratory strains. We have developed a combined mechanical and chemical disruption procedure using vigorous bead-beating that can consistently disrupt yeast cells (> 95%), irrespective of cell cycle and metabolic state.

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All previous studies on the yeast metabolome have yielded a plethora of information on the components, function and organisation of low molecular mass and macromolecular components involved in the cellular metabolic network. Here we emphasise that an understanding of the global dynamics of the metabolome in vivo requires elucidation of the temporal dynamics of metabolic processes on many time-scales. We illustrate this using the 40 min oscillation in respiratory activity displayed in auto-synchronous continuously grown cultures of Saccharomyces cerevisiae, where respiration cycles between a phase of increased respiration (oxidative phase) and decreased respiration (reductive phase).

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Duplications of the rectum constitute one of the rare congenital anomalies. Presentation as a sequestrated interlabial mass without any associated anomaly has not been reported before. We cannot readily offer any embryological explanation for this congenital distortion.

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Symptomatic presentation of orthotopic ureterocele in infancy is very rare and its association with posterior urethral valves has not been reported till date. The first such case and a review of the literature on anomalies in association with posterior urethral valves is presented.

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Objective: The New Ballard Score (NBS) has been evaluated only until 96 h of age. We studied the validity and reliability of NBS for gestational age (GA) assessment on days 1, 5 and 7 of postnatal age (PNA).

Design And Setting: This prospective, analytical study was conducted in a level III neonatal unit.

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Chronic systemic (hepatosplenic) candidiasis (CSC) is a syndrome of invasive candidiasis characterized by fever without localizing signs or symptoms. It occurs predominantly in patients with acute leukemia, after prolonged severe neutropenia. We report a young woman who underwent extensive chemotherapy for granulocytic sarcoma of the ovary; CSC then developed in this patient.

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Metastatic tumours of the eye commonly occur from primaries of the breast or lung. The prognosis is poor and the mean life expectancy is 6.5 months from diagnosis.

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To evaluate the efficacy of a semirigid mini-endoscope and the Swiss Lithoclast compared with a conventional rigid endoscope and ultrasound, the results of transurethral ureteroscopic lithotripsy in 147 patients over a period of 30 months were analyzed according to the type of ureteroscope (rigid v semirigid) and energy (ultrasound v Lithoclast) used. In the initial 25 cases (Group I), a conventional rigid ureteroscope and ultrasound were used. The latter 122 patients (Group II) were subjected to ureteroscopic lithotripsy using a miniscope and the Lithoclast.

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