STUDY DISCOVERS CHROMOSOME THERAPY TO

CORRECT SEVERE CHROMOSOME DEFECT AND

IMPORTANT DISCOVERY FOR DIAGNOSIS OF

GENETIC DISEASES

MOLECULAR BIOLOGYTEACHER: LINA MARTINEZ

ANA MARÍA GUTIÉRREZMEDICAL STUDENT

III SEMESTER2014

PONTIFICIA BOLIVARIANA UNIVERSITY

FOLDING

FOLDING

• All eukaryotes cells have a defined nucleus, inside there in humans exist 46 pars of chromosomes, whose are responsible of the genetic information.

• The propose of genetic engineer is the control and transfer of DNA to improve the humans defect and other problems.

• Some problems who have had the genetic engineer to grow up is the ethic implications to comes with the experimental process, and the complication which may comes with this practice

INTRODUCTION

“STUDY DISCOVERS CHROMOSOME

THERAPY TO CORRECT SEVERE CHROMOSOME

DEFECT”Jan. 13, 2014

NEWS 1

NEWS 1

In the future the objective is to remove

the defective chromosome and

replace it with a normal chromosome

The defect analyzed in this study was the ring chromosome, is rare

genetic defect.

All the people with ring chromosome have

many birth problems ,the principal is the

short stature because of the problems with cell

division

A normal chromosome is linear, they are protected in the end for the telomeres,

they functions are:•Prevents degradation of

DNA ending•Stop fusion with other

chromosomes•Facilitates duplication

without losing the endings

with ring chromosomes, the two ends of the chromosome fuse

together, forming a circle. This fusion can be

associated with large terminal deletions.

NEWS 1

Deletions can result in disabling genetic

disorders, if the genes in the deletion are

necessary for normal cellular functions

Induced pluripotent stem cells are a type

of pluripotent stem cell that can be generated directly from adult cells.

they can propagate indefinitely, as well as

give rise to every other cell type in the body

Results: Researchers observed that, after

reprogramming, the ring chromosome 17 that had

the deletion vanished entirely and was replaced

by a duplicated copy of the normal chromosome

17.

NEW 1

These reprogrammed was did in ring

chromosome 13 too, cells also lost the ring

chromosome, and contained a duplicated

copy of the normal chromosome 13.

It is only possible to do this chromosome

therapy for cells in culture, not in human

beings.

It may be useful to use this for tissue repair of birth defects and other abnormalities found in

individuals with chromosomal defects as

techniques for regenerative medicine are developed in the future.

OBSERVATION 1

Individuals with ringchromosomes may display avariety of birth defects, but nearlyall persons with ringchromosomes at least displayshort stature due to problemswith cell division.

This study search with a genetictherapy substitute an abnormalchromosome for a corrected. The ringchromosomes is a rare pathology , butif that scientists gets replace for anormal chromosome they could havean idea of how to substitutechromosomes for another pathologiesmore frequent like dawnsyndrome, Edwards syndrome, fragilex syndrome ..., and avoid thecomplications for those who comeswith these pathologies.

“IMPORTANT DISCOVERY FOR DIAGNOSIS OF

GENETIC DISEASES”Jan. 16, 2014

NEWS 2

NEWS 2

The DNA molecules are in all the cells in body into the

nucleus, they are around the nucleosomes. The DNA and nucleosomes form the

chromatin, which is the main component of

chromosomes.

This work stand out that the regulations of the

genes are associated with three-dimensional

organization of the chromatin

The chromatin architecture, which varies according to

the cell type.

NEWS 2

This study found another form to identify anomaly

in the DNA sequences that control the genes. And

with the previous methods this couldn’t be done.

In actually to the studying the causes of genetic diseases usually the

laboratories use DNA sequencing and the

analysis of gene sequences.

The chromatin structure have an important

function in the control of gene activities

NEWS 2

With this investigation the scientific could have an

impact on a large number of genetic diseases

This discovery paves the way for studying the mechanisms

that control the architecture of chromatin should have a

significant impact on identifying the causes and diagnosing

genetic diseases.

OBSERVATION 2

The possibility to identify regulatory DNA that

controls a given gene facilitates the study of the

chromatin architecture , that discovery will

generate a large impact on the diagnosis of genetic diseases in a embryos.

In the future when this technique improve the

defects could be diagnosed in the

pregnancy and solved to evade the complication for

those who comes with a genetic disease.

MEDICAL UTILITY

Opportunity to generate preventive

measures and therapy treatment in

early stage

The diagnosis in embryo stage, with the technique

based on analyzing chromatin architecture,

gives a specific diagnostic and reduces the medical

speculation.

MEDICAL UTILITY

Reduce the complications and risk

for the baby in the time to analyzing their

genes

The reprogramming cellular could solve a

different types of mutations, not only

deletion pathologies also duplication, translocation

and inversion

The diagnosis is faster and precise

More probability to knows what was the causes who get the

genetic disease

MEDICAL UTILITY

Other use for the reprogramming

different to the solve the genetic disorder is improve the quality of transplants to reduce

rejection

Some pathologies affects and puts in risk the life of the baby, the idea in the

future is to fix the abnormal chromosomes to solve this

problem and they could have a normal life without

complications.

The reprogramming open the opportunity to remove variety of genetic birth defects

MEDICAL UTILITY

Other use is help normalize cellular

functions suppressed

This technology could help to avoid the tumor

proliferation

In conclusion this technology could help the society to increase the quality of life, not

only in the humans ,but also in animals and

plants improving their capacities and qualities

• http://books.google.com.co/books?id=ZAqRrB07idgC&pg=PA173&dq=etica+en+manipulacion+genetica&hl=es-419&sa=X&ei=9knsUpbqAYf7kQep14CoBw&ved=0CCoQ6AEwAA#v=onepage&q=etica%20en%20manipulacion%20genetica&f=false

• http://sisbib.unmsm.edu.pe/bvrevistas/dermatologia/v09_sup1/biolog%C3%ADa%20molecular%20.htm

• http://books.google.com.co/books?id=AGh8rK1MmOsC&pg=PA1270&dq=cromosoma+de+anillo&hl=en&sa=X&ei=CbnnUq7FE-LjsAT0moKICg&ved=0CDUQ6AEwAg#v=onepage&q=cromosoma%20de%20anillo&f=false

• MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7 ed., Medellín, UPB, 2012, pág 55.

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