Immunogenetics
Encyclopedia
Immunogenetics is the branch of medical research that explores the relationship between the immune system
and genetics
.
Autoimmune diseases, such as type 1 diabetes, are complex genetic traits which result from defects in the immune system. Identification of genes defining the immune defects may identify new target genes for therapeutic approaches. Alternatively, genetic variations can also help to define the immunological pathway leading to disease.
Relatively new Science.
Its origin is usually attributed to Edward Jenner who discovered in 1796 that cowpox, or vaccinia, induced protection against human smallpox.
It took two centuries before the World Health Organization announce in 1979 that smallpox had been eradicated.
The term Immunogenetics or Immungenetics is based on the two words immunology and genetics, and is defined as “a sub-category of genetics focussing on the genetic basis of the immune reaction” according to MeSH (NCBI/NLM, 1971).
Genetics
(based on Greek γενεά geneá ‚descent‘ and γένεσις génesis ‚origin‘) is the science researching the transfer of characteristics from one generation to the next. The genes of an organism (strands of DNA) and the transfer of genes from the parent to the child generation of an organism in the scope of possible variations are the basis of genetics.
Immunology
deals with the biological and biochemical bases for the body defending germs such as bacteria
, virus
and mycosis
(fungal infections) as well as foreign agents such as biological toxins and environmental pollutants, and failures and malfunctions of these defence mechanisms. Apart from these external effects on the organism there are also defence reactions regarding the body’s own cells, e.g. in the scope of the bodily reactions on cancer and the lacking reaction of a body on healthy cells in the scope of a immune mediated diseases. Hence, immunology is a sub-category of biology
.
The term immungenetics comprises all processes of an organism, which are on the one hand controlled and influenced by the genes of the organism, and are one the other hand significant with regard to the immunological defence reactions of the organism.
and the immune system
dates back to the 19th century. However, the prevention and early defence of diseases was an essential task for all shamans, medicine men and early „doctors“ during the entire human evolution. The first Nobel Prize in the field of immungenetics was awarded to Baruj Benacerraf
, Jean Dausset
and George Davis Snell
in 1980 for discovering genetically determined cellular surface structures, which control immunological reactions.
A special focus is often laid on the forecast regarding and therapy of genetically based autoimmune diseases, which include all diseases caused by an extreme reaction of the immune system against the body’s own tissue. By mistake the immune system recognises the body’s own tissue as a foreign object which is to be fought. This can result in serious inflammatory reactions which may permanently damage the respective organs. Autoimmune diseases, the outbreak and/or course of which can be visible in the individual genome of the organism include multiple sclerosis
, diabetes type I, rheumatoid arthritis
or Crohn’s disease (an example for an immune mediated disease without genetic disposition is HIV
, which is caused by virus). As for multiple sclerosis a much acclaimed article in the journal Nature dated May 2010 (Baranzini et al.: Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010, 464; S. 1351-1356 – for link see below) showed that this autoimmune disease is not caused by a genetic variation but the course and the treatability are considerably influenced by genetic dispositions. This research was based on analysing three monovular pairs of twins of which one twin has contracted multiple sclerosis whereas the other one has not.
Immune system
An immune system is a system of biological structures and processes within an organism that protects against disease by identifying and killing pathogens and tumor cells. It detects a wide variety of agents, from viruses to parasitic worms, and needs to distinguish them from the organism's own...
and genetics
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
.
Autoimmune diseases, such as type 1 diabetes, are complex genetic traits which result from defects in the immune system. Identification of genes defining the immune defects may identify new target genes for therapeutic approaches. Alternatively, genetic variations can also help to define the immunological pathway leading to disease.
Relatively new Science.
Its origin is usually attributed to Edward Jenner who discovered in 1796 that cowpox, or vaccinia, induced protection against human smallpox.
It took two centuries before the World Health Organization announce in 1979 that smallpox had been eradicated.
The term Immunogenetics or Immungenetics is based on the two words immunology and genetics, and is defined as “a sub-category of genetics focussing on the genetic basis of the immune reaction” according to MeSH (NCBI/NLM, 1971).
Genetics
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
(based on Greek γενεά geneá ‚descent‘ and γένεσις génesis ‚origin‘) is the science researching the transfer of characteristics from one generation to the next. The genes of an organism (strands of DNA) and the transfer of genes from the parent to the child generation of an organism in the scope of possible variations are the basis of genetics.
Immunology
Immunology
Immunology is a broad branch of biomedical science that covers the study of all aspects of the immune system in all organisms. It deals with the physiological functioning of the immune system in states of both health and diseases; malfunctions of the immune system in immunological disorders ; the...
deals with the biological and biochemical bases for the body defending germs such as bacteria
Bacteria
Bacteria are a large domain of prokaryotic microorganisms. Typically a few micrometres in length, bacteria have a wide range of shapes, ranging from spheres to rods and spirals...
, virus
Virus
A virus is a small infectious agent that can replicate only inside the living cells of organisms. Viruses infect all types of organisms, from animals and plants to bacteria and archaea...
and mycosis
Mycosis
A mycosis is a fungal infection of animals, including humans. Mycoses are common, and a variety of environmental and physiological conditions can contribute to the development of fungal diseases...
(fungal infections) as well as foreign agents such as biological toxins and environmental pollutants, and failures and malfunctions of these defence mechanisms. Apart from these external effects on the organism there are also defence reactions regarding the body’s own cells, e.g. in the scope of the bodily reactions on cancer and the lacking reaction of a body on healthy cells in the scope of a immune mediated diseases. Hence, immunology is a sub-category of biology
Biology
Biology is a natural science concerned with the study of life and living organisms, including their structure, function, growth, origin, evolution, distribution, and taxonomy. Biology is a vast subject containing many subdivisions, topics, and disciplines...
.
The term immungenetics comprises all processes of an organism, which are on the one hand controlled and influenced by the genes of the organism, and are one the other hand significant with regard to the immunological defence reactions of the organism.
History of immungenetics
The medical history of immunologyImmunology
Immunology is a broad branch of biomedical science that covers the study of all aspects of the immune system in all organisms. It deals with the physiological functioning of the immune system in states of both health and diseases; malfunctions of the immune system in immunological disorders ; the...
and the immune system
Immune system
An immune system is a system of biological structures and processes within an organism that protects against disease by identifying and killing pathogens and tumor cells. It detects a wide variety of agents, from viruses to parasitic worms, and needs to distinguish them from the organism's own...
dates back to the 19th century. However, the prevention and early defence of diseases was an essential task for all shamans, medicine men and early „doctors“ during the entire human evolution. The first Nobel Prize in the field of immungenetics was awarded to Baruj Benacerraf
Baruj Benacerraf
Baruj Benacerraf was a Venezuelan-born American immunologist, who shared the 1980 Nobel Prize in Physiology or Medicine for the "discovery of the major histocompatibility complex genes which encode cell surface protein molecules important for the immune system's distinction between self and...
, Jean Dausset
Jean Dausset
Jean-Baptiste-Gabriel-Joachim Dausset was a French immunologist born in Toulouse, France. He married Rose Mayoral in 1963, with whom he had two children, Henri and Irène...
and George Davis Snell
George Davis Snell
George Davis Snell was an American mouse geneticist and basic transplant immunologist.-Work:George Snell shared the 1980 Nobel Prize in Physiology or Medicine with Baruj Benacerraf and Jean Dausset for their discoveries concerning "genetically determined structures on the cell surface that...
in 1980 for discovering genetically determined cellular surface structures, which control immunological reactions.
Current research fields
In the last 20 years research activities focussed on a large number of different questions in immungenetics. Both the acceleration of and the decreasing costs for the sequencing of the genes have resulted in a more intensive research of both academic and commercial working groups. Current research topics particularly deal with forecasts on the course of diseases and therapy recommendations due to genetic dispositions and how these dispositions can be affected by agents (gene therapy).A special focus is often laid on the forecast regarding and therapy of genetically based autoimmune diseases, which include all diseases caused by an extreme reaction of the immune system against the body’s own tissue. By mistake the immune system recognises the body’s own tissue as a foreign object which is to be fought. This can result in serious inflammatory reactions which may permanently damage the respective organs. Autoimmune diseases, the outbreak and/or course of which can be visible in the individual genome of the organism include multiple sclerosis
Multiple sclerosis
Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...
, diabetes type I, rheumatoid arthritis
Rheumatoid arthritis
Rheumatoid arthritis is a chronic, systemic inflammatory disorder that may affect many tissues and organs, but principally attacks synovial joints. The process produces an inflammatory response of the synovium secondary to hyperplasia of synovial cells, excess synovial fluid, and the development...
or Crohn’s disease (an example for an immune mediated disease without genetic disposition is HIV
HIV
Human immunodeficiency virus is a lentivirus that causes acquired immunodeficiency syndrome , a condition in humans in which progressive failure of the immune system allows life-threatening opportunistic infections and cancers to thrive...
, which is caused by virus). As for multiple sclerosis a much acclaimed article in the journal Nature dated May 2010 (Baranzini et al.: Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010, 464; S. 1351-1356 – for link see below) showed that this autoimmune disease is not caused by a genetic variation but the course and the treatability are considerably influenced by genetic dispositions. This research was based on analysing three monovular pairs of twins of which one twin has contracted multiple sclerosis whereas the other one has not.
External links
- Nature Artikel 05/2010 regarding the MS-Genom (abstract)
- European Federation for Immunogenetics
- Paper by Havard Medical School on Immunogenetics, Aug. 19th, 2004
- APHIA-Homepage
- Right-Health Page on Immunogenetics
- German group working on Immunogenetic solutions
- IMGT Databases at the European Bioinformatics Institute
- FAQ on autoimmune diseases by US Department for Health and Human Services
- TIQS Software for genetic characterizations
- Nature article, example for a genetic association between UCP2 and multiple sclerosis
- Homepage of the National Genome association studies
- Abstract to the article "Recent advances in the genetics of autoimmune disease" 2009
- Abstract to the article "Autoimmune diseases: insights from genome-wide association studies", 2008