SPINAL MUSCULAR ATROPHY AND RNA ANCIENT GENETIC

REMNANT

Luis Miguel Ruiz Velasquez

Medicine

INTRODUCTION

THE SPINAL MUSCULAR ATROPHY MIGHT SOON BE TREATMENT WITH CHEMICALLY MODIFY

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/

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SPINAL MUSCULAR ATROPHY

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•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.

SPINAL MUSCULAR ATROPHY

• The infusion of antisense oligonucleotides increase in the level of SMN protein in motor neurons

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STUDENT OBSERVATION

I think that antisense oligonucleotides open the

possibility to improve the genetic mistake that cause some

hereditary diseases. 

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

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.

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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

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

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STUDENT OBSERVATION

Structure like RNA in the C. Difficile, could be a power tool in

the determination of evolutive relations between different species  

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

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

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.

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MEDICAL UTILITY

BIBLIOGRAPHY 

· COOPER: "La Célula". 2° edición. Editorial Marbán Libros

 · KARP, G. “Biología celular y molecular”, 5° edición, Editorial McGraw-Hill Interamericana,2008

THANKS