A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...

Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. in diseases poorly treatable often an unfavorable prognostic sign. Patients epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions MELAS-syndrom...

The selective manipulation of mitochondrial DNA (mtDNA) replication and expression within mammalian cells has proven difficult. One promising approach is to use peptide nucleic acid (PNA) oligomers, nucleic acid analogues that bind selectively to complementary DNA or RNA sequences inhibiting replication and translation. However, the potential of PNAs is restricted by the difficulties of deliver...

OBJECTIVE To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(...

Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...

A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytoc...

Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...

in the mitochondrial DNA (mtDNA) that lead to oxidative phosphorylation impairment, ATP depletion, cellular dysfunction, and ultimately cell death [1]. Most mitochondrial diseases involve impairment of multiple organs, particularly in tissues with a high energy demand such as nerve and muscle. Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAta...

A 69-year-old male presented with 15 years duration of progressive unsteadiness gait, incoordination in upper limbs, and mild cognitive impairment. He required assistance to walk 10 into the illness. also had multiple lipomas around his shoulders neck that were noticed since 40 age; several them been removed surgically past. There was no history visual or hearing impairment, loss consciousness,...