STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES

UNIVERSIDAD PONTIFICIA BOLIVARIANAMOLECULAR BIOLOGY

DANIEL DUQUE RESTREPOTRIRD SEMESTER MEDICAL STUDENT

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.

STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT

Geneticists from USA and Japan used the iPSC (inducedPluripotent Stem Cells) to change skin tissue in laboratoryto stem cells, and with this procedure eliminate ringchromosome and replace it for a normal. The people withthis disease have a short stature and mental retard, likeprincipal characteristics.

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 18 pair

Ring chromosome in 13 pair

STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT

• The positive results were seen, only in patients with ringchromosomes (3 of 5 persons). The explanation of thischange is that it appears that ring chromosomes arelost during rapid and continuous cell divisions duringreprogramming.

STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT

The other normal chromosome is duplicated to take theplace of the ring chromosome. This technique provides apossible way to correct problems in genetic material, andavoid negative effects of this mistake of nature.

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 ofother diseases, different from those caused by ringchromosomes, because this syndromes areextremely rare.

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.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES

The function of many of these non-coding DNA regionsis unknown, because the principal goal of investigatorswas know the genes, until the moment; making it difficultfor scientists to discover how and why the diseaseappears and develops.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES

The investigation was made in pancreascells, that produce insulin, a hypoglycemichormone that control entrance of glucose tomany organs.

Many people have small DNA variants in suchregulatory elements, and these variants affectgene expression in the cells that produce insulin.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETES

In type 2 diabetes, the tissuesbecome less responsive toinsulin, resulting in high bloodconcentration of glucose. Patientswith disease, the pancreas cannot answer correctly to thisincreased demand and sugaraffect homeostasis of organism.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETESSTUDENT COMENTARY

I think the scientist must continue with thisinvestigations, because a greater part of non-codingDNA is unknown; and it can be a very importantform to understand the changes in type II diabetes.

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) .

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.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETESMEDICAL 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.

NON-CODING DNA IMPLICATED IN TYPE 2 DIABETESMEDICAL 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.

BIBLIOGRAPHY

MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7. ed. Medellín: UPB. Facultad deMedicina, 2012. 52-58 p.

Case Western Reserve University (January 13, 2014). Study discovers chromosome therapyto 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