Discovery of new form of dystrophin protein could lead to therapy for some Duchenne muscular dystrophy patients & Genetics, lifestyle have a strong impact on biomarkers for inflammation, cancer

1. Discovery of new form of dystrophin protein could
lead to therapy for some Duchenne muscular
dystrophy patients
&
Genetics, lifestyle have a strong impact on
biomarkers for inflammation, cancer
Susana López Pineda
Medicine Student
UPB
Teacher:
Lina Martinez

4. Proteins
Are
macromolecules
and the end of
all cellular process
They have many functions
as buffer, inmunologic
sistem, enzymes,
expression genetic control
and molecules in the
membrane cell

5. Discovery of new form of dystrophin protein
could lead to therapy for some Duchenne
Muscular Dystrophy patients
August 10, 2014

6. FAT TISSUE SCAR TISSUE

7. Dystrophin Gene
Exon 5
IRES
Initiation of protein translation within exon 6

8. Exon skipping
Removal of an exon early in the gene
in order to mimic the IRES-activating
mutations found in minimally affected
patients.

9. In my opinion those studies about the
new form of dystrophin protein are so
interesting because shows other form
to produce a protein in exon 5 by
IRES,that means that symptoms in
Duchenne muscular dystrophy are less
severe.
Personal Opinion

10. Genetics, lifestyle have a strong
impact on biomarkers for
inflammation, cancer
August 22, 2014
Protein levels in
the
bloodstream

11. Indicators of many
biological states,
biochemical and
molecular levels in the
human blood or urine
Biomarkers
In cancer

12. Study in Uppsala University
Hereditary
factors
More than 75
percent of the
proteins
16 genes with a
strong effect on
protein levels

13. If biomarkers
are present in
healthy
persons
could be
used like
Screening ,
identificated
and prevent
early some
diseases

14. In this study we can realize that
the clinical of the patient is most
important than an exams or
biomarkers, How many patients
are we treating just for a positive
laboratory?. Use laboratory exams
of biomarkers are an excellent
tool to make a diagnostic but we
need to know when is necessary
to use them.

16. Both studies
contributed interesting
problems caused by
damages in RNA
splicing or proteins
synthesis, and how the
not correct process
can unchain different
diseases.

17. If we identify why some
biomarkers are present
in some healthy people,
maybe we can find why
some disease can
development in a
person and why not in
other person, and could
prevent it.

18. When we find the
different causes or
what kind of
mutation
generates a
disease, it’s when
we can really
understand why
some treatments
can work in some
patients and not in
other ones.

19. REFERENCES
 MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 2. ed. Medellín: UPB. Fac. de
Medicina, 2006. 112-115 p.
 Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto,
Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar
Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Francesca
Gualandi, Steve D Wilton, Louise R Rodino-Klapac, Lin Yang, Diane M Dunn,
Daniel R Schoenberg, Robert B Weiss, Michael T Howard, Alessandra Ferlini, Kevin
M Flanigan. Translation from a DMD exon 5 IRES results in a functional dystrophin
isoform that attenuates dystrophinopathy in humans and mice.Nature Medicine,
2014; DOI: 10.1038/nm.3628
News Available in :
http://www.sciencedaily.com/releases/2014/08/140810214154.htm
 Enroth et al. Strong effects of genetic and lifestyle factors on biomarker variation
and use of personalized cutoffs. Nat. Commun, August 2014 DOI:
10.1038/ncomms5684
News Available in : http://www.sciencedaily.com/releases/2014/08/140822083901.htm

20. Thank you !