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) and a small percentage of wild-type sequences can have a strong protective effect against a metabolic defect. Because a genetic approach to correct mtDNA mutations is not currently available, the ability to modulate heteropl...

Abstract Background Mutation of the m. 8993 T > G ATP6 subunit ATP synthase causes a maternally inherited Leigh Syndrome (LS), rapidly fatal encephalomyelopathy in childhood called and related Neuropathy, Ataxia Retinitis Pigmentosa (NARP) adults. There is no cure, relevant animal models are few. Here we describe novel mouse model LS preclinical efficacy gene therapy approach to neutralize m...

Synapses form after growing axons recognize their appropriate targets. The subsequent assembly of aligned pre and postsynaptic specializations is critical for synaptic function. This highly precise apposition of presynaptic elements (i.e. active zones) to postsynaptic specializations (i.e. neurotransmitter receptor clusters) strongly suggests that communication between the axon and target is re...

With interest we read the article by Demily et al. about a 30 year old male with neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome due to the mutation m.8993TNC, clinically manifesting as cerebellar ataxia, pyramidal syndrome, and psychosis [1]. Upon antipsychotic medication the patient developed dystonia, akathisia, and extrapyramidal symptoms with falls [1]. Switching to clozapine ...

A bacterial strain, designated AcBz01, was isolated from a water sample collected from Gomti River, Lucknow, India, and identified using a molecular approach. On the basis of the bacterial 16S rRNA gene sequence phylogeny and comparison of this gene sequence with sequences in Ribosomal Database project II, evidence given in this study, it is proposed that isolate is closely related to members o...

Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6 (referred to as Atp6p in yeast) are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia. In previous studies, using the yeast Saccharomyces cerevisiae as a model we were able to better define how...

HCP (hybrid-cluster protein) contains two Fe/S clusters, one of which is a hybrid [4Fe-2S-2O] cluster. Despite intensive study, its physiological function has not been reported. The Escherichia coli hcp gene is located in a two-gene operon with hcr, which encodes an NADH-dependent HCP reductase. E. coli HCP is detected after anaerobic growth with nitrate or nitrite: possible roles for it in hyd...