1. STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT
SEVERE CHROMOSOME DEFECT
NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
UNIVERSIDAD PONTIFICIA BOLIVARIANA
MOLECULAR BIOLOGY
DANIEL DUQUE RESTREPO
TRIRD SEMESTER MEDICAL STUDENT

4. INTRODUCTION
Study discovers chromosome
therapy to correct severe
chromosome defect:
The studies of chromosome therapy,
until this moment are poor, but it can be
on future a posibility to fix damage of
genetic material.
Non-coding DNA implicated
in type 2 diabetes:
Only 2% of the genetic material are
genes (that is traduced to porteins),
and the other part is the “non-coding
DNA”, which is the responsable of
regulation of the genes, that is the
reason to discover the chromosome
content.

5. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
Geneticists from USA and Japan used the iPSC (induced
Pluripotent Stem Cells) to change skin tissue in laboratory
to stem cells, and with this procedure eliminate ring
chromosome and replace it for a normal. The people with
this disease have a short stature and mental retard, like
principal characteristics.

6. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
The experiment was made in cells culture of 5 patients:
• 2 with deletions of telomers in chromosome 18.
• 1 with a 18 ring chromosome.
• 2 with a 13 ring chromosome.
Ring chromosome in 13 pair
Ring chromosome in 18 pair

7. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
• The positive results were seen, only in patients with ring
chromosomes (3 of 5 persons). The explanation of this
change is that it appears that ring chromosomes are
lost during rapid and continuous cell divisions during
reprogramming.

8. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
The other normal chromosome is duplicated to take the
place of the ring chromosome. This technique provides a
possible way to correct problems in genetic material, and
avoid negative effects of this mistake of nature.

9. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
STUDENT COMENTARY
I think the iPSC (induced Pluripotent Stem Cells)
must be developed, because it can be the solution of
other diseases, different from those caused by ring
chromosomes, because this syndromes are
extremely rare.

10. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
Variations in non-coding DNA sections are an important risk
factor to type 2 diabetes, different from known risks like body
weight, diet and age. This study is transcendental due to
more of 300 million people in the world have this disease.

11. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
The function of many of these non-coding DNA regions
is unknown, because the principal goal of investigators
was know the genes, until the moment; making it difficult
for scientists to discover how and why the disease
appears and develops.

12. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
The investigation was made in pancreas
cells, that produce insulin, a hypoglycemic
hormone that control entrance of glucose to
many organs.
Many people have small DNA variants in such
regulatory elements, and these variants affect
gene expression in the cells that produce insulin.

13. NON-CODING DNA IMPLICATED
IN TYPE 2 DIABETES
In type 2 diabetes, the tissues
become less responsive to
insulin, resulting in high blood
concentration of glucose. Patients
with disease, the pancreas can
not answer correctly to this
increased demand and sugar
affect homeostasis of organism.

14. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
STUDENT COMENTARY
I think the scientist must continue with this
investigations, because a greater part of non-coding
DNA is unknown; and it can be a very important
form to understand the changes in type II diabetes.

15. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
MEDICAL UTILITY
It can be use like a laboratory method, to make experiments
in tissue and treat to resolve problems related with
duplications, deletions and other genetics mistakes with the
iPSC (induced Pluripotent Stem Cells) .

16. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT
MEDICAL UTILITY
This procedure can colaborate in future, with
the chromosomic therapy, in the treatment of
tissue repair in congenital diseases.

17. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
MEDICAL UTILITY
This research could be the
first step of a extensive
process that would finish
with the identification of the
non-coding DNA that can
help patients who have
severe risk factors to suffer
type II diabetes, changing
their lifestyle, mainly.

18. NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES
MEDICAL UTILITY
It can be a form to understand
the pathophysiologic process
of type 2 diabetes and with
this, invent paraclinic exams to
help people in a early state of
the disease and try to improve
the life of patients.

19. BIBLIOGRAPHY
MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7. ed. Medellín: UPB. Facultad de
Medicina, 2012. 52-58 p.
Case Western Reserve University (January 13, 2014). Study discovers chromosome therapy
to correct severe chromosome defect. Retrieved: February 1º, 2014. Available in:
http://www.sciencedaily.com/releases/2014/01/140113100207.htm
Imperial College London (January 12, 2014). Non-coding DNA implicated in type 2 diabetes.
Retrieved:
February
1º,
2014.
Available
in:
http://www.sciencedaily.com/releases/2014/01/140112190803.htm