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您的检索式：作者名="Mahalaxmi Iyer"
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| 1 | Mitochondrial dysfunction: A hidden trigger of autism?显示文摘Autism is a heterogeneous neurodevelopmental and neuropsychiatric disorder with no precise etiology.Deficits in cognitive functions uncover at early stages and are known to have an environmental and genetic basis.Since autism is multifaceted and also linked with other comorbidities associated with various organs,there is a possibility that there may be a fundamental cellular process responsible for this.These reasons place mitochondria at the point of interest as it is involved in multiple cellular processes predominantly involving meta-bolism.Mitochondria encoded genes were taken into consideration lately because it is inher-ited maternally,has its own genome and also functions the time of embryo development.Various researches have linked mitochondrial mishaps like oxidative stress,ROS production and mt-DNA copy number variations to autism.Despite dramatic advances in autism research worldwide,the studies focusing on mitochondrial dysfunction in autism is rather minimal,especially in India.India,owing to its rich diversity,may be able to contribute significantly to autism research.It is vital to urge more studies in this domain as it may help to completely understand the basics of the condition apart from a genetic standpoint.This review focuses on the worldwide and Indian scenario of autism research;mitochondrial abnormalities in autism and possible therapeutic approaches to combat it. | Vellingiri Balachandar Kamarajan Rajagopalan Kaavya Jayaramayya Madesh Jeevanandam Mahalaxmi Iyer | 2021 | Genes & Diseases2021，8，5： | 1 |
| 2 | Oxidative stress and mitochondrial transfer:A new dimension towards ocular diseases显示文摘Ocular cells like,retinal pigment epithelium(RPE)is a highly specialized pigmented monolayer of post-mitotic cells,which is located in the posterior segment of the eye between neuro sensory retina and vascular choroid.It functions as a selective barrier and nourishes retinal visual cells.As a result of high-level oxygen consumption of retinal cells,RPE cells are vulnerable to chronic oxidative stress and an increased level of reactive oxygen species(ROS)generated from mitochondria.These oxidative stress and ROS generation in retinal cells lead to RPE degeneration.Various sources including mtDNA damage could be an important factor of oxidative stress in RPE.Gene therapy and mitochondrial transfer studies are emerging fields in ocular disease research.For retinal degenerative diseases stem cell-based transplantation methods are developed from basic research to preclinical and clinical trials.Translational research contributions of gene and cell therapy would be a new strategy to prevent,treat and cure various ocular diseases.This review focuses on the effect of oxidative stress in ocular cell degeneration and recent translational researches on retinal degenerative diseases to cure blindness. | Mohana Devi Subramaniam Mahalaxmi Iyer Aswathy P.Nair Dhivya Venkatesan Sinnakaruppan Mathavan Nimmisha Eruppakotte Soumya Kizhakkillach Manoj kumar Chandran Ayan Roy Abilash Valsala Gopalakrishnan Balachandar Vellingiri | 2022 | Genes & Diseases2022，9，3： | 1 |
| 3 | Highlighting novel genes associated with the classical Rett syndrome patient from India显示文摘Rett syndrome(RTT)is a rare X-linked brain disorder predominantly in females,caused by mutations in Methyl-CpGBinding Protein2(MECP2)gene with the characteristic features of progressive developmental delay,severe intellectual disability,microcephaly,retarded growth,loss of communication abilities,loss of purposeful hand movements,abnormal walking or gait abnormalities,repetitive hand movements,abnormal breathing,irritability and abnormal behaviours.1 Over the last five years,more than eighty genes related to RTT were found using next generation sequencing.2 Here we presented a comprehensive clinical report of a 38-year-old RTT woman having de novo heterozygous Laminin Subunit Gamma 3 gene(LAMC3)mutation G>A(Chr9:133944387;p.C947Y)links with RTT neurological dysfunctions,brain malformations,reduced brain volume and hypoplasia of corpus callosum.This new finding supports the possibility of targeting LAMC3 gene for rescuing the neuropathology of RTT.Other deleterious mutations found in genes such as,CACNA1B(rs4422842),CUBN(rs2271460),GPATCH3(rs779537923),TUBB1(rs463312),KCNJ5(rs768906222),VWA5A(rs551469534),DNAAF1(rs751148678),and PARP1(rs3219145)were unreported in RTT patients. | Gomathi Mohan Ranjan Jyoti Sarma Mahalaxmi Iyer Nachimuthu Senthil Kumar Balachandar Vellingiri | 2022 | Genes & Diseases2022，9，6： | 0 |
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