Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80 % of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome.

Extracellular Application of CRMP2 Increases Cytoplasmic Calcium through NMDA Receptors.

Collapsin Response Mediator Protein 2 (CRMP2) is an intracellular protein involved in axon and dendrite growth and specification. In this study, CRMP2 was identified in a conditioned media derived from degenerated sciatic nerves (CM). On cultured rat hippocampal neurons, acute extracellular application of CM or partially purified recombinant CRMP2 produced an increase in cytoplasmic calcium.

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.

This study describes for the first time the cystathionine beta-synthase (CBS) gene mutations in Venezuelan patients. A total of five disease-causing mutations were identified in 9 out of 10 independent chromosomes. Four of the mutations have been previously described (G85R, T191M, D234N, and D444N) and a novel mutation was found (Q243X).