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Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients

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Eye and Vision 2015年第1期2卷 170-176页

作者： Siobhan Eustace Ryan Fergus Ryan David Barton Veronica O’Dwyer Derek Neylan National Optometry Centre Dublin Institute of TechnologyKevin StreetDublin 8Ireland School of Biological Sciences Dublin Institute of TechnologyKevin StreetDublin 8Ireland Centre for Medical Genetics Our Lady’s Hospital for Sick ChildrenCrumlinDublin 12Ireland

Background:Leber’s Hereditary Optic Neuropathy(LHON;MIM 535000)is one of the most commonly inherited optic neuropathies and it results in significant visual morbidity among young adults with a peak age of onset between the ages of 15–*** worldwide incidence of LHON is approximately 1 in 31,000.95%of LHON patients will have one of 3 primary mitochondrial mutations,G3460A(A52T of ND1),G11778A(R340H of ND4)and T14484C(M64V of ND6).There is incomplete penetrance and a marked gender bias in the development of visual morbidity with approximately 50%of male carriers and 10%of female carriers developing optic *** recovery can occur but is dependent on the mutation present with the highest level of visual recovery seen in patients who have the T14484C *** 3 primary mutations are typically identified by individual end-point PCR-restriction fragment length polymorphism(RFLP)or individual targeted bi-directional Sanger sequencing *** purpose of this study was to design a simple multiplex PCR-RFLP that could detect these 3 primary LHON mutations in one ***:PCR primers were designed to incorporate a MaeIII restriction site in the presence of 3460A and 14484C mutations with the 11778A mutation naturally incorporating a MaeIII site.A multiplex PCR-RFLP assay was developed to detect the 3 common mutations in a single *** LHON controls based on the mitochondrial genome harbouring the 3 common mutations were synthesized and cloned into plasmids to act as reliable assay *** from previously tested patients and the synthetic LHON controls were subjected to the multiplex PCR-RFLP *** RFLP products were detected by agarose gel ***:The novel PCR-RFLP assay accurately detects the 3 primary mutations both in patient DNA and in synthesized DNA control samples with a simple visual mutation detection *** synthesized DNA was demonstrated to be a robust control for the detection of LHON mutations

关键词： LHON mitochondrial mutations Mutation detection Visual morbidity Multiplex PCR

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Crosslink between mutations in mitochondrial genes and brain disorders:implications for mitochondrial-targeted therapeutic interventions

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Neural Regeneration Research 2023年第1期18卷 94-101页

作者： Jaspreet Kalra Department of Pharmacology ISF College of PharmacyGhal KalanMogaPunjabIndia Department of Molecular Physiology and Biological Physics University of VirginiaCharlottesvilleVAUSA

At the present,association of mitochondrial dysfunction and progression of neurological disorders has gained significant *** in mitochondrial network dynamics,point mutations,deletions,and interaction of pathogenomic proteins with mitochondria are some of the possible underlying mechanisms involved in these neurological *** genetics,defects in mitochondrial oxidative phosphorylation machinery,and reactive oxygen species production might share common crosstalk in the progression of these neurological *** is of significant interests to explore and develop therapeutic strategies aimed at correcting mitochondrial *** review provided insights on mitochondrial dysfunction/mutations involved in the progression of Alzheimer’s disease,Huntington’s disease,and epilepsy with a special focus on Parkinson’s disease *** with the deleterious effects of mitochondrial mutations in aforesaid neurological disorders,this paper unraveled the available therapeutic strategy,specifically aiming to improve mitochondrial dysfunction,drugs targeting mitochondrial proteins,gene therapies aimed at correcting mutant mtDNA,peptide-based approaches,and lipophilic cations.

关键词： adenosine-triphosphate deficiency mitochondrial fission/fusion mitochondrial mutations neurodegenerative disorders oxidative phosphorylation therapeutic interventions

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