Alejandra Uribe Ocampo

Medicine FacultyPONTIFICAL BOLIVARIAN UNIVERSITY

2012

Genes gives an order of synthetize molecules for a physiological function

Procedures damage that are not control can cause a disease

Importance of controlling the genetic process

• Identification of genes and proteins that damage muscle cells associated with genetic causes of inherited muscular dystrophy.

• Biomarker-based test to diagnosticate facioscapulohumeral muscular dystrophy (FSHD) by examining DUX4 expression in skeletal muscle tissue. 

Taken from: http://www.ferato.com/wiki/index.php/Distrofia_muscular

• Some diseases are the result of the lack of an effective repression of a gene. The DUX4 is a transcription factor that causes FSHD.

• Scientist establishes a roadmap for how the expression of the DUX4 gene can cause FSHD. Mechanisms for why the muscle is damaged and what can develop this illness.

Taken from: http://science.halleyhosting.com/sci/soph/nucleic/code.htm

• Sought answers about what the DUX4 protein does both normally in the body and in the FSHD disease process is crucial to identified that the DUX4 regulates many genes.

• Those findings have implications for developing future treatments, as well as cancer immunotherapies like vaccines, and how they work to suppress an illness.

Taken from: http://www.unomasenlafamilia.com/espana-probara-400-ninos-vacuna-pediatrica-gripe.html

Investigate about the differents mistakes that could have a genetic process is very important in health sciencies to discover alternative pathways to treat a genetic illness and found a cure to those inheritables diseases; that’s why we have to search about the molecular mechanism of an illness

Taken from: http://maletadeopiniones.blogspot.com/2011/09/el-valor-de-la-opinion.html

• Researchers have analyzed 6 RNA binding proteins known as heterogeneous nuclear ribonucleoparticle (hnRNP) proteins.

• This study describes how RNA binding proteins cooperatively control diversity of proteins in human cells by regulating the alternative splicing of genes. Taken from:

http://www.labspaces.net/117685/The_splice_of_life__Proteins_cooperate_to_regulate_gene_splicing

• Scientists found that these proteins bind and regulate each other and a whole network of others RNAs binding proteins, participating in the homeostasis of the cell.

• The orchestration of this proteins is important because they could reveal how a disruption of the process leads to disease.

Taken from: http://www.eldiario.net/noticias/2012/2012_01/nt120124/nuevoshorizontes.php?n=8

• The genes specifically targeted by the RNA binding proteins are also implicated in genomic mutations, the major of mutations in cancer occur in the introns that are removed during splicing.

• If researchers can understand how these proteins work together to regulate splicing, it may offer clues for drugs designs. Taken from: http://comecocos.com/2011/curar-el-cancer-

no-es-rentable/

Know how some proteins control the genetic splicing and others genetics procedures is fundamental to human biology and disease, so I think that every day is necessary to search about these topics because is essential to the diagnostic treatment and prevention of a disease. 

Taken from: http://eulaliamarina.blogspot.com/2009/05/pensamientos-de-mafalda-quino.html

Taken from: http://www.blogdelseguro.com/2010/04/07/medicina-privada-%C2%BFdonde-esta-la-diferencia/

Investigations based on genetic transcription are very important because they allowed to identify the causes of some diseases that are the result of a mistake in some detail of the process; additionally this kind of searches makes possible to find diagnostics methods, treatments and a possible cure for an illness

 Taken from: http://www.gefor.4t.com/cursos/cursos2006.htm

Identify normal genetic procedures and it's products is important to make a differential diagnostic comparing atypical procedures and it’s results. With a knowledge of non typical makers in tissues you could have a probe of a disease and could diagnostic it on time.

Taken from: http://www.buzoncatolico.es/actualidad/medicoscatolicospromesadelmedicocatolico.html/

Everyday inhibitors of genetic transcription gets more importance in both clinical and research medical context because from them is possible to control and modify cell activity in search of a benefit for the population.

This investigations everyday are more required because with it is possible to find the correct mechanism present in human genetic, and because these are crucial in the prevention of a disease.

Taken from: http://www.medbook.es/profiles/blogs/lecciones-de-japones-para

• Martínez Sánchez LM, Vargas Grisales N, Toro Montoya AE, Pamplona Sierra AP, Quevedo Orrego E. Biología molecular. 6. ed. Medellín: UPB. Fac. de Medicina; 2011.

• Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, et al. Genes and Disease Mechanisms Behind a Common Form of Muscular Dystrophy Discovered. ScienceDaily. 2012

• Yeo G, Huelga SC, Vu AQ, Arnold JD, Liang TY, Liu PP. The Splice of Life: Proteins Cooperate to Regulate Gene Splicing. UC San Diego Health System. 2012

THANKS!