A5090684963- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Nuclear Structure and Function
- ATP Synthase and ATPases Research
- Glycogen Storage Diseases and Myoclonus
- Inflammatory Myopathies and Dermatomyositis
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Skin and Cellular Biology Research
- RNA regulation and disease
- Hereditary Neurological Disorders
- Lysosomal Storage Disorders Research
- Connective tissue disorders research
- Neurological diseases and metabolism
- Cellular transport and secretion
- Parkinson's Disease Mechanisms and Treatments
- Trace Elements in Health
- Biochemical and Molecular Research
- Autoimmune Neurological Disorders and Treatments
- Ubiquitin and proteasome pathways
- RNA Research and Splicing
- Adipose Tissue and Metabolism
National Institute of Mental Health and Neurosciences
2015-2024
Saveetha University
2021-2024
Sri Eshwar College of Engineering
2024
Aravind Eye Hospital
2023
University of Iowa
2022
New York Proton Center
2022
University Hospital of Zurich
2020
Chettinad Academy of Research and Education
2020
Vinayaka Missions Medical College and Hospitals
2018-2019
Bharathidasan University
2016-2018
Muscular dystrophies (MDs) and inflammatory myopathies (IMs) are debilitating skeletal muscle disorders characterized by common pathological events including myodegeneration inflammation. However, an experimental model representing both pathologies displaying most of the distinctive markers has not been characterized. We investigated cardiotoxin (CTX)-mediated transient acute mouse degeneration compared cardinal features with human MDs IMs. The CTX displayed degeneration, apoptosis,...
Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) nuclear genome or both been reported mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of encephalopathy, lactic acidosis stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond gene mutation.The clinical, histopathological,...
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Myopathies are among the major causes of mortality in world. There is no complete cure for this heterogeneous group diseases, but a sensitive, specific, and fast diagnostic tool may improve therapy effectiveness. In study, Raman spectroscopy applied to discriminate between muscle mutants Drosophila on basis associated changes at molecular level. spectra were collected from indirect flight muscles mutants, upheld(1) (up(1)), heldup(2) (hdp(2)), myosin heavy chain(7) (Mhc(7)), actin88F(KM88)...
Muscle diseases are clinically and genetically heterogeneous manifest as dystrophic, inflammatory myopathic pathologies, among others. Our previous study on the cardiotoxin mouse model of myodegeneration inflammation linked muscle pathology with mitochondrial damage oxidative stress. In this study, we investigated whether human display changes. biopsies from disease patients, represented by dysferlinopathy (dysfy) (dystrophic pathology; n = 43), polymyositis (PM) (inflammatory 24), distal...
Mutations in PLA2G6 were identified patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis families members affected INAD, ANAD DPC from India. Therefore, main aim this study was to perform 22 Indian DPC. DNA sequence entire coding region 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn,...
<b>Background:</b> Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of variants and their relative frequency essential for accurate diagnosis. <b>Aim:</b> To study spectrum morphologic changes immunohistochemically proven cases dysferlinopathies, correlate findings with clinical phenotype durations illness determine frequency. <b>Materials Methods:</b> Dysferlinopathies...
GNE myopathy is a clinicopathologically distinct distal with autosomal-recessive inheritance. The gene mutations are known to cause this form of myopathyOver the last 6 years, total 54 patients from 48 families were diagnosed have based on clinical and histopathological findings. We reported 23 cases earlier cohort 12 11 underwent genetic testing for mutation.Nine belonging eight confirmed as by analysis. There six women three men. Mean age onset was 26.7 ± 5.47 years (20-36 years) mean at...
Abstract Mitochondrial dysfunction and neurodegeneration underlie movement disorders such as Parkinson’s disease, Huntington’s disease Manganism among others. As a corollary, inhibition of mitochondrial complex I (CI) II (CII) by toxins 1-methyl-4-phenylpyridinium (MPP + ) 3-nitropropionic acid (3-NPA) respectively, induced degenerative changes noted in neurodegenerative diseases. We aimed to unravel the down-stream pathways associated with CII compared CI Manganese (Mn) neurotoxicity....
TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin Z disc of the sarcomere, and known to cause LGMD2G, rare muscle disorder characterised by proximal distal lower limb weakness, calf hypertrophy loss ambulation. A total 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well LGMD2G cases from 7 unrelated Dravidian families. Clinical examination revealed predominantly proximo-distal form scapular...
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive type of haematologic precursor malignancy primarily often manifesting in the skin. We sought to provide thorough clinical characterization and report our experience on therapeutic approaches BPDCN.In present multicentric retrospective study, we collected all BPDCN cases occurring between 05/1999 03/2018 10 secondary care centres German-Swiss-Austrian cutaneous lymphoma working group.A total 37 were identified...
Proper assessment of disabilities is essential for rehabilitation patients with Duchenne muscular dystrophy. The aim this study was to identify and quantify the in children dystrophy correlate them impairment. Thirty-one age four years above were studied. motor functions evaluated using total score, upper lower extremity function grades timed tests. Disability quantified Barthel index. mean scores scales were: score -52 +/- 7.8, functional grade -4.4 1.9 -12.5 5.8. index ranged from 45-95 a...
Background : Duchenne muscular dystrophy (DMD) is the most common that affects young boys and dystrophin gene on X chromosome has been found to be associated with disorder. Materials Methods In this prospective study, 112 clinically diagnosed DMD patients had muscle biopsy were tested for exon deletions. Genotyping was also carried out at STR44, STR45, STR49 STR 50 markers in 15 families. Results Of suspected patients, diagnosis of confirmed by histopathology and/or genetics 101 patients....
Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior nucleus hypertrophy is specifically associated with disorders children.This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed various metabolic during 2005-2012. The routine sequences (T1 weighted, T2...
Duchenne muscular dystrophy (DMD) and Becker (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict effect gene on dystrophin protein its impact clinical phenotype. In study, 415 clinically diagnosed patients were tested for Multiplex ligation dependent probe amplification (MLPA). Muscle biopsy performed 34 with negative MLPA. Phenotype-genotype correlation done using PROVEAN, hydrophobicity eDystrophin analysis. We have utilized...