Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes / Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy

Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death. It has been classified into three types based on the severity of symptoms. Type I SMA is the most severe form with death within the first 2 years of life. Type II and III SMA patients show intermediate and mild forms of the disorder. Aim: To describe the clinical and electrophysiological findings of 26 Chilean patients with SMA with molecular confirmation. Patients and Methods: Retrospective multicenter analysis of patients with SMA assessed between 2003 and 2010. The diagnosis was suspected on clinical and electrophysiological criteria. Since 2006 molecular genetics confirmation was implemented in one of our centers. Results: Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58 percent) were males. SMA I, II and III clinical criteria were observed in 4 (15.4 percent), 11 (42.3 percent) and 11 (42.3 percent)patients, respectively. All had proximal muscle weakness and atrophy. Electromyography showed features of acute denervation or re-innervation with normal motor and sensory nerve conduction. Nine patients required a muscle biopsy. The genetic confirmation of the disease by PCR technique followed by restriction fragment length polymorphism method disclosed the SMN1 gene deletion in all 26 cases. All patients died secondary to respiratory failure, between eight and 14 months of life. Conclusions: An adequate clinical and molecular diagnosis of spinal muscular atrophy will help for a better management of these patients.

Daucus carota as a novel model to evaluate the effect of light on carotenogenic gene expression

Carotenoids are synthesized in prokaryotic and eukaryotic organisms. In plants and algae, these lipophilic molecules possess antioxidant properties acting as reactive oxygen species scavengers and exert functional roles in hormone synthesis, photosynthesis, photomorphogenesis and in photoprotection. During the past decade almost all carotenogenic genes have been identified as a result of molecular, genetic and biochemical approaches utilizing Arabidopsis thaliana as the model system. Studies carried out in leaves and fruits of A. thaliana and tomato determined that light regulates carotenoid biosynthesis preferentially through the modulation of carotenogenic gene transcription. In this work we showed for the first time that light induces accumulation of psy 1, pds and zds2 transcripts in leaves of Daucus carota (carrot), a novel plant model. In addition, modified roots of carrots exposed to light accumulate zdsl, whereas the pds gene is highly repressed, suggesting that some carotenogenic genes, which are expressed in roots, are regulated by light. Additionally, light negatively regulates the development of the modified carrot root in a reversible manner. Therefore, this suggests that light affects normal growth and carotenogenic gene expression in the modified root of carrot plants. The molecular insight gained into the light-regulated expression of carotenoid genes in this and other model systems will facilitate our understanding of the regulation of carotenoid biosynthesis to improve the prospects for the metabolic engineering of carotenoid production in plants.