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RecAS70P: a tool for studying human disease

Osgyan, Rikard (2016) MOBK01 20161
Degree Projects in Molecular Biology
Popular Abstract
A tool for studying human disease

The human body is divided into small compartments called cells and each cell contains the information that is needed to develop a human being from the moment of fertilization to the full grown adult. The information is stored in the form of a twisted ladder consisting of building blocks called deoxy ribonucleic acids, or DNA.

DNA is made up of four types of deoxy ribonucleic acids that alternate in the twisted ladder to make up messages, which can be read by the cell to produce proteins. Proteins are machines that can speed up and sync chemical reactions in the body, like producing the energy needed for a human to lift a heavy weight. Proteins are also important for DNA because they can repair DNA.... (More)
A tool for studying human disease

The human body is divided into small compartments called cells and each cell contains the information that is needed to develop a human being from the moment of fertilization to the full grown adult. The information is stored in the form of a twisted ladder consisting of building blocks called deoxy ribonucleic acids, or DNA.

DNA is made up of four types of deoxy ribonucleic acids that alternate in the twisted ladder to make up messages, which can be read by the cell to produce proteins. Proteins are machines that can speed up and sync chemical reactions in the body, like producing the energy needed for a human to lift a heavy weight. Proteins are also important for DNA because they can repair DNA. The genetic material is constantly exposed to harmful chemicals that can change the DNA messages and lead to human disease like Fanconi anemia, a disease characterized by cancer predisposition. Therefore the cell have developed a mechanism to reverse such damage that may occur.

A technology is available that makes it possible to read the messages in DNA, and it have become cheaper to use in the last few years. Doctors today can track changes in a patients DNA and find changes in the protein coding messages that give a person disease. Recently, doctors found a patient with Fanconi anemia that had a change, a mutation, in one of the genes that produce a DNA repair protein called RAD51. They learned why the mutation in RAD51 was causing disease, but it took a long time to understand how the mutation was causing illness, and the patient could accumulate a lot of DNA damage during this period. However, what if it was possible to predict and understand the behaviour of a disease even before it is found in humans?

RecA is a bacterial protein which is equivalent to RAD51 in that they repair DNA in the exact same way, one could compare them as belonging to the same family of proteins. RecA and RAD51 are produced by very similar DNA codes and by comparing their codes the corresponding mutation in RAD51 can be mapped and created in RecA.

Recently, it was found that when the Fanconi anemia causing mutation in RAD51 was introduced in RecA, they behaved in a similar way. Therefore mutations in RecA can be studied and predictions of how RAD51 mutants will behave can be made. The study was only confirmed for one case of human disease, however, this study may open a new field in medicine. It will allow a more educated guess on what medicine will help a patient before the human protein is studied.

Many mutations known to disrupt a bacterial proteins function have already been found and characterized. If these mutations could be created in the equivalent human protein, it could be used to predict and understand mutations that may lead to human disease even before a patient is found with that particular mutation. In this way it would be possible to know what medicine will most effectively fight of the disease, because the likelihood of getting well in many cases increases the earlier the medicine is administrated to the patient.

If we already know what might cause disease in humans, we might as well use it for a purpose that will help future generations.

Supervisor: Stephen C. Kowalczykowski/Department of Microbiology and Molecular Genetics, University of California
Bachelor´s Degree Project 15 credits, 2016
Department of Biology, Lund University (Less)
Please use this url to cite or link to this publication:
author
Osgyan, Rikard
supervisor
organization
course
MOBK01 20161
year
type
M2 - Bachelor Degree
subject
language
English
id
8894241
date added to LUP
2016-10-28 11:21:56
date last changed
2016-10-28 11:21:56
@misc{8894241,
  author       = {{Osgyan, Rikard}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{RecAS70P: a tool for studying human disease}},
  year         = {{2016}},
}