A5015134324- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Metabolism and Genetic Disorders
- Cellular transport and secretion
- Hippo pathway signaling and YAP/TAZ
- Adipose Tissue and Metabolism
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Ethnobotanical and Medicinal Plants Studies
- Protein Structure and Dynamics
- Enzyme Structure and Function
- Cancer, Hypoxia, and Metabolism
- Metabolomics and Mass Spectrometry Studies
- Diet and metabolism studies
- Redox biology and oxidative stress
- Botanical Research and Chemistry
- Sirtuins and Resveratrol in Medicine
- Peroxisome Proliferator-Activated Receptors
- Pharmacological Effects of Medicinal Plants
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Viral Infections and Immunology Research
- Evolution and Genetic Dynamics
- Iron oxide chemistry and applications
Biomedical Research Institute
2019-2024
University of Alabama at Birmingham
2024
Banaras Hindu University
2020-2023
Government Ayurvedic College and Hospital
2023
Carilion Clinic
2016-2022
Virginia Tech
2015-2022
Institute of Management Technology
2016-2021
Carilion Roanoke Memorial Hospital
2019
In-Q-Tel
2017
Harvard University
2011-2012
Mutations in the mitochondrial DNA (mtDNA) can cause a variety of human diseases. In most cases, such mutations are heteroplasmic (i.e. mutated and wild-type mtDNA coexist) small percentage sequences have strong protective effect against metabolic defect. Because genetic approach to correct is not currently available, ability modulate heteroplasmy would major impact phenotype many patients with disorders. We show here that restriction endonuclease targeted mitochondria has this ability. A...
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders and have been found to accumulate during normal aging. Despite the fact that hundreds characterized at molecular level, their mechanisms genesis unknown. We tested effect double-strand breaks muscle mtDNA by developing mouse model in which mitochondrially targeted restriction endonuclease (PstI) was expressed skeletal mice. Because harbors two PstI sites, transgenic founders developed myopathy associated with...
Members of the peroxisome proliferator-activated receptor γ coactivator (PGC) family are potent inducers mitochondrial biogenesis. We have tested potential effect increased biogenesis in cells derived from patients harboring oxidative phosphorylation defects due to either nuclear or DNA mutations. found that PGC-1α and/or PGC-1β expression improved respiration a complex III IV deficiency as well transmitochondrial cybrids encephalomyopathy lactic acidosis and stroke A3243G tRNA (Leu)UUR gene...
Stable aqueous monodispersed silver nanoparticles were synthesised by reducing nitrate using various sugars such as glucose, fructose, lactose, and sucrose at 55-60 oC. A mixture of two stabilising agents, polyvinyl pyrrolidone (PVP) molecular weight (MW 40, 000) gelatin plays a decisive part in controlling size shape superfine nanoparticles. Using PVP, better control particle was obtained, whereas resulted sea urchin kind structure. Effects several processing parameters pH, quantities...
Aging is the major known risk factor for onset of neurodegenerative diseases such as Alzheimers disease (AD) and Parkinsons (PD). Mitochondria play a central role in aging mitochondrial dysfunction increases with age produces harmful levels reactive oxygen species which leads to cellular oxidative stress (free-radical theory aging). Oxidative highly damaging macromolecules also cause loss impairment neurons disorders. A growing body evidence suggests that modulation sirtuin activity...
Synaptic neurotransmission is known to be an energy demanding process. At the presynapse, ATP required for loading neurotransmitters into synaptic vesicles, priming vesicles before release, and as a substrate various kinases ATPases. Although it assumed that presynaptic sites usually harbor local mitochondria, which may serve powerhouse generate well calcium depot, clear role of mitochondria in biochemical functioning presynapse not well-defined. Besides few subtypes like mossy fibers Calyx...
The phenotypic spectrum among girls with heterozygous mutations in the X-linked intellectual disability (XLID) gene CASK (calcium/calmodulin-dependent serine protein kinase) includes postnatal microcephaly, ponto-cerebellar hypoplasia, seizures, optic nerve growth retardation and hypotonia. Although knockout mice were previously reported to exhibit perinatal lethality a 3-fold increased apoptotic rate brain, deletion was not found affect neuronal physiology their electrical properties....
We have studied the functional effects of nonsense mitochondrial DNA (mtDNA) mutations in COXI and ND5 genes a colorectal tumor cell line. Surprisingly, these cells had an efficient oxidative phosphorylation (OXPHOS); however, when mitochondria from were transferred to osteosarcoma nuclear background (osteosarcoma cybrids), rate respiration markedly declined suggesting that phenotypic expression mtDNA was prevented by background. found there significant increase steady-state levels...
Abstract Mitochondrial DNA (mtDNA) 3243A > G tRNALeu (UUR) heteroplasmic mutation (m.3243A G) exhibits clinically heterogeneous phenotypes. While the high mtDNA heteroplasmy exceeding a critical threshold causes m itochondrial e ncephalomyopathy, l actic cidosis with s troke-like episodes (MELAS) syndrome, low aternally i nherited d iabetes or without eafness (MIDD) syndrome. How quantitative differences in produces distinct pathological states has remained elusive. Here we show that...
Human brain is a high energy consuming organ that mainly relies on glucose as fuel source. Glucose catabolized by mitochondria via glycolysis, tri-carboxylic acid (TCA) cycle and oxidative phosphorylation (OXPHOS) pathways to produce cellular in the form of adenosine triphosphate (ATP). Impairment mitochondrial ATP production causes disorders, which present clinically with prominent neurological myopathic symptoms. Mitochondrial defects are also neurodevelopmental disorders (e.g. autism...
Background Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome) causes developmental delay in girls, while boys, the only allele these leads to epileptic encephalopathy. The mechanism for disorders remains unknown. -linked cerebellar hypoplasia is presumed result from defects Tbr1-reelin-mediated neuronal migration. Method Here we report clinical histopathological analyses a deceased 2-month-old boy with -null mutation. We next generated mouse line where completely deleted...
Abstract Background CASK is an X‐linked gene in mammals and its deletion males incompatible with life. heterozygous mutations female patients associate intellectual disability, microcephaly, pontocerebellar hypoplasia, optic nerve whereas hemizygous manifest as early infantile epileptic encephalopathy a grim prognosis. Here, we report rare case of survival male patient harboring null mutation to adolescent age. Methods Trio whole exome sequencing analysis was performed from blood genomic...
Cobalt Ferrite (CoFe2O4) nanowires of different aspect ratio have been synthesized by using a hydrothermal method in presence an external magnetic field. Field Emission Scanning Electron Microscopy (FESEM) and Transmission (TEM) studies show that the formed diameters range 28-38 nm with their length varying between 0.55-1.50 μm. High Resolution TEM (HRTEM) indicate growth along [100]. The samples high coercivity (Hc) low saturation magnetization (Ms) at room temperature. Mössbauer carried...
Human brain is a high energy consuming organ that mainly relies on glucose as fuel source. Glucose catabolized by mitochondria via glycolysis, tri-carboxylic acid (TCA) cycle and oxidative phosphorylation (OXPHOS) pathways to produce cellular in the form of adenosine triphosphate (ATP). Impairment mitochondrial ATP production causes disorders, which present clinically with prominent neurological myopathic symptoms. Mitochondrial defects are also neurodevelopmental disorders (e.g. autism...