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Gene therapy in X-linked retinitis pigmentosa

Åhman, Josefin (2013) MOBT19 20122
Degree Projects in Molecular Biology
Abstract
Disarmed killers can help you see the light once again

Imagine that you would gradually lose your vision, starting with your night vision and then continuing with your day vision until nothing remains. This is the reality of the people suffering from the eye disease retinitis pigmentosa. We have long stood defenseless towards this disease, but now thanks to new discoveries in gene therapy there is hope of light in the end of the tunnel.

Retinitis pigmentosa (RP) is an eye disease where the affected person gradually loses his or her ability to see. There are several different forms of the disease, and the most serious form is called X-linked retinitis pigmentosa (XLRP). The first symptom of the disease, night blindness, is often... (More)
Disarmed killers can help you see the light once again

Imagine that you would gradually lose your vision, starting with your night vision and then continuing with your day vision until nothing remains. This is the reality of the people suffering from the eye disease retinitis pigmentosa. We have long stood defenseless towards this disease, but now thanks to new discoveries in gene therapy there is hope of light in the end of the tunnel.

Retinitis pigmentosa (RP) is an eye disease where the affected person gradually loses his or her ability to see. There are several different forms of the disease, and the most serious form is called X-linked retinitis pigmentosa (XLRP). The first symptom of the disease, night blindness, is often noticed when the patient is a teenager and starts to go out in the evening. As the disease continues, the peripheral vision starts to disappear leading to so called tunnel vision.

Retinitis pigmentosa is a genetic disease, meaning that it is caused by faults in one or more genes. During the last decade, much research has been done to test if genetic eye diseases could be treated with a new type of therapy called gene therapy. The idea of gene therapy is to replace a broken gene by inserting a good copy of the gene in the cells where it is needed. The gene is carried by a virus that can break into the cells and express the protein encoded by the gene. One type of virus that is often used in gene therapeutic studies originates from the same family of viruses that cause AIDS. However, the viruses used for gene therapy are so modified that they no longer can cause disease.

Giving back what is lost

In 2011, a defect in a gene of a young patient suffering from XLRP was discovered. Defects of this gene is the second most common cause of XLRP, and a gene therapeutic way to compensate for the loss of the gene is therefore very sought for. The protein encoded by the gene is involved in transport within cells, and it is necessary for the survival of the light capturing photoreceptor cells in the eye.

By using viruses, I have inserted a good copy of the defective gene into skin cells taken from the patient. The expressed protein localizes to parts of the cell that suggests that the protein´s role in transport is intact. The cells of the patient showed structural differences in the Golgi complex (a part of the cell which is involved in transport of proteins) that could not be seen in healthy cells. Insertion of the good gene copy into the patient cells normalized the structure of the Golgi complex, thereby showing a therapeutic potential.

Supervisor: PD Dr. John Neidhardt
Master´s Degree Project 60 credits in Molecular Molecular Genetics, 2013
Department of Biology, Lund University (Less)
Please use this url to cite or link to this publication:
author
Åhman, Josefin
supervisor
organization
course
MOBT19 20122
year
type
H2 - Master's Degree (Two Years)
subject
language
English
id
3920661
date added to LUP
2013-07-12 11:01:47
date last changed
2013-07-12 11:01:47
@misc{3920661,
  abstract     = {Disarmed killers can help you see the light once again 

Imagine that you would gradually lose your vision, starting with your night vision and then continuing with your day vision until nothing remains. This is the reality of the people suffering from the eye disease retinitis pigmentosa. We have long stood defenseless towards this disease, but now thanks to new discoveries in gene therapy there is hope of light in the end of the tunnel. 

Retinitis pigmentosa (RP) is an eye disease where the affected person gradually loses his or her ability to see. There are several different forms of the disease, and the most serious form is called X-linked retinitis pigmentosa (XLRP). The first symptom of the disease, night blindness, is often noticed when the patient is a teenager and starts to go out in the evening. As the disease continues, the peripheral vision starts to disappear leading to so called tunnel vision. 

Retinitis pigmentosa is a genetic disease, meaning that it is caused by faults in one or more genes. During the last decade, much research has been done to test if genetic eye diseases could be treated with a new type of therapy called gene therapy. The idea of gene therapy is to replace a broken gene by inserting a good copy of the gene in the cells where it is needed. The gene is carried by a virus that can break into the cells and express the protein encoded by the gene. One type of virus that is often used in gene therapeutic studies originates from the same family of viruses that cause AIDS. However, the viruses used for gene therapy are so modified that they no longer can cause disease. 

Giving back what is lost 

In 2011, a defect in a gene of a young patient suffering from XLRP was discovered. Defects of this gene is the second most common cause of XLRP, and a gene therapeutic way to compensate for the loss of the gene is therefore very sought for. The protein encoded by the gene is involved in transport within cells, and it is necessary for the survival of the light capturing photoreceptor cells in the eye. 

By using viruses, I have inserted a good copy of the defective gene into skin cells taken from the patient. The expressed protein localizes to parts of the cell that suggests that the protein´s role in transport is intact. The cells of the patient showed structural differences in the Golgi complex (a part of the cell which is involved in transport of proteins) that could not be seen in healthy cells. Insertion of the good gene copy into the patient cells normalized the structure of the Golgi complex, thereby showing a therapeutic potential. 

Supervisor: PD Dr. John Neidhardt 
Master´s Degree Project 60 credits in Molecular Molecular Genetics, 2013 
Department of Biology, Lund University},
  author       = {Åhman, Josefin},
  language     = {eng},
  note         = {Student Paper},
  title        = {Gene therapy in X-linked retinitis pigmentosa},
  year         = {2013},
}