Folding

“Myotonic dystrophy disrupts normal

control of gene expression in heart”

and

“Epigenetic alterations may contribute

to age-related breast cancer risk”

Sofia Medina Escobar Pontifical Bolivarian University

III semesterMolecular Biology

INTRODUCTION

• Genetic material normally conserves theinformation of the original gene.

• In every phenomena exist a series of steps mediated by enzymes that could be one or more.

• For each phenomena of transcription exist enzymes and factors which promote the synthesis and others promote the inhibition

Myotonic dystrophy disrupts normal control of gene expression in heart

• Repeatedly think we know the cause of adisease, however, it may be that behind thisapparent cause there are other less studiedcauses, which makes the first theory is notnecessarily the true cause of the disease.

• Alterations that produce a diseaseand are unchangeable, can have alast mechanism by which alter thefunction of the body, if thismechanism is mediated by asubstance that is replaceable, themanifestation of a disease could beavoided.



• The study of the genetic alterations thatcause the disease, should serve in the futureto prevent people susceptible by heredity, race, etc. .., to study their genome and receivecounseling or treatment to prevent theexpression of the same and also theiroffspring.


• Some diseases may have involvement of manyorgans that are not necessarily limiting orlikely to cause death or suffering to thepatient, but if the final effect in the body thatcan cause this and its mechanism isdetermined, at least, prevent deterioration, suffering and death.

PERSONAL OPINION

• Is very important that genetics has come tofind as seemingly small but importantphenomena for the explanation of thediseases that affect humans, I hope that in thefuture with the same evidence, they will beable to aviod or prevent some of thosedeseases.

Epigenetic alterations may contributeto age-related breast cancer risk

• Studies generally assumepopulation and tissuesalready affected by thedisease, it is interesting tothem based on healthypopulation, and that haverisk factors.


• In patients with risk factors or disease inremission is possible to monitor and diagnoseearly stage in the revival of the same, if theconduct of their genetic material is known.


• Diseases, especially cancer, may have multiplecauses, if the relationship of environmental,familial factors, etc. .. is studied, it is possibleat some point, will prevent the developmentof tumors in people at risk.


• If cells of a population are studied withoutconsidering the risk factor, evaluating both themethylation of DNA, as itssurroundings, and thencomparing thatdegenerated to cancerand not, surely the cause will be found for somediseases.

PERSONAL OPINION

• It is interesting that scientists are so patientand methodical in his work, at the observationof the abnormal and normal cell behavior, thattakes a lot of time, and also provides a greatknowledge for compression of themechanisms that cause the disease.

MEDICAL UTILITY FIRST NEW

• In patients with myotonic dystrophy type 1,the transcription factor MEF2 is abnormallylow in cardiac cells, if you could give this to apatient, the cause of death from the diseasecould be reduced.

MEDICAL UTILITY FIRST NEW

• Relatives of a patient with myotonic dystrophytype 1, should be studied to initiate earlytreatment and genetic counseling to modifythe transmission with the rest of their futureoffspring.

MEDICAL UTILITY SECOND NEW

• Early mastectomy if there arechanges in the methylation ofDNA in patient with familyhistory but without the disease.

MEDICAL UTILITY SECOND NEW

• Possible manipulation of genetic material in patients at risk before they make changes in their DNA.

bibliografia

• Martínez S, Lina María. Biología Molecular. 7 ed. Medellín: UPB. Facultad de Medicina, 2012.89-93.P

• Auinash Kalsotra, Ravi K. Singh, Priyatansh Gurha, Amanda J. Ward, Chad J. Creighton, Thomas A. Cooper. The Mef2 Transcription Network Is Disrupted in Myotonic Dystrophy Heart Tissue, Dramatically Altering miRNA and mRNA Expression. Sciencedaily(online magazine), 2014 (january 9) available online: http://www.sciencedaily.com/releases/2014/01/140109132313.htm

• Kevin C Johnson, Devin C Koestler, Chao Cheng, Brock C Christensen. Age-related DNA methylation in normal breast tissue and its relationship with invasive breast tumor methylation. Sciencedaily (online magazine), 2014 (january 30) available online: http://www.sciencedaily.com/releases/2014/01/140130152807.htm

http://www.sciencedaily.com/releases/2014/01/140109132313.htm

http://www.sciencedaily.com/releases/2014/01/140130152807.htm

Folding

Health & Medicine

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