Spinal muscular atrophy is a neuromuscular disease caused by a genetic mutation that results in a lack of the survival motor neuron protein. The disease leads to degeneration of motor neurons and muscle atrophy. A potential new treatment involves using antisense oligonucleotides to modify gene splicing and increase production of the survival motor neuron protein in motor neurons. RNA structures were likely important before the evolution of DNA as some bacteria have RNA sensors that control gene expression. Discovering these ancient RNA remnants helps understand evolutionary relationships between species. Redirecting alternative splicing through antisense oligonucleotides could treat diseases caused by splicing errors like spinal muscular atrophy.

1. SPINAL MUSCULAR ATROPHY AND RNA ANCIENT GENETIC REMNANT Luis Miguel Ruiz Velasquez Medicine

4. INTRODUCTION

5. THE SPINAL MUSCULAR ATROPHY MIGHT SOON BE TREATMENT WITH CHEMICALLY MODIFY

6. SPINAL MUSCULAR ATROPHY Muscle atrophy is defined as a decrease in the mass of the muscle Spinal Muscular Atrophy ( SMA ) is a neuromuscular disease characterized by degeneration of motor neurons http://journalmex.files.wordpress.com/2009/03/sarcopenia.jpg

7. SPINAL MUSCULAR ATROPHY http://www.hhmi.org/images/bulletin/sept2005/structural_detail.jpg The SMN1-2 genes which produce the SMN protein, is missing or mutated beyond repair in SMA patients In SMA the splicing complex mistakenly skips an exon.

8. SPINAL MUSCULAR ATROPHY The infusion of antisense oligonucleotides increase in the level of SMN protein in motor neurons http://rnajournal.cshlp.org/content/12/3/F1.medium.gif

9. STUDENT OBSERVATION I think that antisense oligonucleotides open the possibility to improve the genetic mistake that cause some hereditary diseases.

10. THE DISCOVER OF AN ANCIENT GENETIC REMNANT FROM A TIME BEFORE DNA EXISTED

11. THE DISCOVER OF AN ANCIENT GENETIC REMNANT FROM A TIME BEFORE DNA EXISTED RNA is an obligated step in the protein synthesis There are many RNAs with other roles – in particular regulating which genes are expressed, but also as the genomes of most viruses. http://www.tbiomed.com/content/figures/1742-4682-6-22-3-l.jpg

12. THE DISCOVER OF AN ANCIENT GENETIC REMNANT FROM A TIME BEFORE DNA EXISTED The clostridium difficile has RNA structure that acts as a sensor to regule the expresion of genes http://www.cdiff-support.co.uk/images/cDiffLarge.jpeg

13. THE DISCOVER OF AN ANCIENT GENETIC REMNANT FROM A TIME BEFORE DNA EXISTED This RNA structure would have been needed for life to exist before the evolution of double-stranded DNA http://i32.tinypic.com/4jpz6f.jpg

14. STUDENT OBSERVATION Structure like RNA in the C. Difficile, could be a power tool in the determination of evolutive relations between different species

15. MEDICAL UTILITY Redirecting the alternative splicing for the introduction of antisense oligonucleotides in the cell, it probably be the therapeutic intervention in multiples diseases that like spinal muscular atrophy, is caused by mistakes that occurs during splicing

16. MEDICAL UTILITY know the physiopathology of the disease , allow create interventions that facilitate handling. http://www.bioingenieria.edu.ar/academica/catedras/fisiolog/images/fisiologia1.jpg

17. MEDICAL UTILITY Discover that RNA structures have the ability to detect molecules and control gen expression, open the possibility that this RNA had been the needed structure for life to exist, before the evolution of double stranded DNA. http://redescolar.ilce.edu.mx/redescolar/Revista/08/imagenes/07_01.jpg

18. MEDICAL UTILITY

19. BIBLIOGRAPHY · COOPER: "La Célula". 2° edición. Editorial Marbán Libros · KARP, G. “Biología celular y molecular”, 5° edición, Editorial McGraw-Hill Interamericana,2008

20. THANKS