The document discusses how genetic alterations can disrupt normal gene expression and contribute to diseases like myotonic dystrophy and breast cancer. It notes that myotonic dystrophy is associated with abnormally low levels of the transcription factor MEF2 in heart tissue, and that epigenetic changes related to DNA methylation may increase breast cancer risk with age. The author advocates further research to better understand disease mechanisms and potentially prevent or treat conditions in at-risk individuals.

1. “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 semester
Molecular Biology

4. INTRODUCTION
• Genetic material normally conserves the
information 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

5. Myotonic dystrophy disrupts normal
control of gene expression in heart
• Repeatedly think we know the cause of a
disease, however, it may be that behind this
apparent cause there are other less studied
causes, which makes the first theory is not
necessarily the true cause of the disease.

6. Myotonic dystrophy disrupts normal
control of gene expression in heart
• Alterations that produce a disease
and are unchangeable, can have a
last mechanism by which alter the
function of the body, if this
mechanism is mediated by a
substance that is replaceable, the
manifestation of a disease could be
avoided.

7. Myotonic dystrophy disrupts normal
control of gene expression in heart
• The study of the genetic alterations that
cause the disease, should serve in the future
to prevent people susceptible by heredity,
race, etc. .., to study their genome and receive
counseling or treatment to prevent the
expression of the same and also their
offspring.

8. Myotonic dystrophy disrupts normal
control of gene expression in heart
• Some diseases may have involvement of many
organs that are not necessarily limiting or
likely to cause death or suffering to the
patient, but if the final effect in the body that
can cause this and its mechanism is
determined, at least, prevent deterioration,
suffering and death.

9. PERSONAL OPINION
• Is very important that genetics has come to
find as seemingly small but important
phenomena for the explanation of the
diseases that affect humans, I hope that in the
future with the same evidence, they will be
able to aviod or prevent some of those
deseases.

10. Epigenetic alterations may contribute
to age-related breast cancer risk
• Studies generally assume
population and tissues
already affected by the
disease, it is interesting to
them based on healthy
population, and that have
risk factors.

11. Epigenetic alterations may contribute
to age-related breast cancer risk
• In patients with risk factors or disease in
remission is possible to monitor and diagnose
early stage in the revival of the same, if the
conduct of their genetic material is known.

12. Epigenetic alterations may contribute
to age-related breast cancer risk
• Diseases, especially cancer, may have multiple
causes, if the relationship of environmental,
familial factors, etc. .. is studied, it is possible
at some point, will prevent the development
of tumors in people at risk.

13. Epigenetic alterations may contribute
to age-related breast cancer risk
• If cells of a population are
studied without
considering the risk factor,
evaluating both the
methylation of DNA, as its
surroundings, and then
comparing that
degenerated to cancer
and not, surely the cause
will be found for some
diseases.

14. PERSONAL OPINION
• It is interesting that scientists are so patient
and methodical in his work, at the observation
of the abnormal and normal cell behavior, that
takes a lot of time, and also provides a great
knowledge for compression
of the
mechanisms that cause the disease.

15. MEDICAL UTILITY FIRST NEW
• In patients with myotonic dystrophy type 1,
the transcription factor MEF2 is abnormally
low in cardiac cells, if you could give this to a
patient, the cause of death from the disease
could be reduced.

16. MEDICAL UTILITY FIRST NEW
• Relatives of a patient with myotonic dystrophy
type 1, should be studied to initiate early
treatment and genetic counseling to modify
the transmission with the rest of their future
offspring.

17. MEDICAL UTILITY SECOND NEW
• Early mastectomy if there are
changes in the methylation of
DNA in patient with family
history but without the disease.

18. MEDICAL UTILITY SECOND NEW
• Possible manipulation of genetic material in
patients at risk before they make changes in
their DNA.

19. 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.ht
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• 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.ht
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