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Identification of markers and genes of importance in graves' disease and associated opthalmopathy

Shahida, Bushra (2013) MOBN19 20122
Degree Projects in Molecular Biology
Abstract
Graves’ disease (GD) is an autoimmune disease in which autoantibodies against the thyroid stimulating hormone receptor stimulate the thyroid to overproduce thyroid hormones. GD is caused by interplay of genetic, environmental and endogeneous factors and is more likely to affect women compared to men. Furthermore 1/3 of the patients suffering from GD develop symptoms of Graves’ opthalmopathy (GO). GO is a disease of orbital tissues with enlargement of extraocular muscle and adipose tissue, and intraorbital inflammation. Smoking is a very strong risk factor in development of GO. Symptoms in GO results in decreased quality of life.
Molecular mechanisms behind GO are not fully understood. The aim of this study was to investigate gene variants... (More)
Graves’ disease (GD) is an autoimmune disease in which autoantibodies against the thyroid stimulating hormone receptor stimulate the thyroid to overproduce thyroid hormones. GD is caused by interplay of genetic, environmental and endogeneous factors and is more likely to affect women compared to men. Furthermore 1/3 of the patients suffering from GD develop symptoms of Graves’ opthalmopathy (GO). GO is a disease of orbital tissues with enlargement of extraocular muscle and adipose tissue, and intraorbital inflammation. Smoking is a very strong risk factor in development of GO. Symptoms in GO results in decreased quality of life.
Molecular mechanisms behind GO are not fully understood. The aim of this study was to investigate gene variants predisposing to GD and/or GO, and to determine how smoking contributes to the development of active GO.
We found gene variants in BTG2, CYR61, ZFP36 and DUSP1 to be associated with GD and/or GO. These genes are known as “immediate early genes” and have an important role in adipogenesis. Adipogenesis is a keyprocess in GO. We also found that IL-1β, IL-6 and the following immediate early genes, CYR61, EGR1, PTGS2, ZFP36 and DUSP1 were higher expressed in smoking patients with active GO compared with non-smoking patients with active GO.
Mapping of the pathological mechanisms in GO and identification of risk genes in GD and GO may result in more specific treatments and patients may be spared suffering from the many adverse effects of existing treatments. Autoimmune mechanisms and mechanisms behind risk factors such as smoking may be shared with other autoimmune diseases like diabetes type 1 and rheumatoid arthritis which may result in novel treatments of autoimmune diseases. (Less)
Please use this url to cite or link to this publication:
author
Shahida, Bushra
supervisor
organization
course
MOBN19 20122
year
type
H2 - Master's Degree (Two Years)
subject
language
English
id
3789322
date added to LUP
2013-05-21 11:29:03
date last changed
2013-05-21 11:29:03
@misc{3789322,
  abstract     = {Graves’ disease (GD) is an autoimmune disease in which autoantibodies against the thyroid stimulating hormone receptor stimulate the thyroid to overproduce thyroid hormones. GD is caused by interplay of genetic, environmental and endogeneous factors and is more likely to affect women compared to men. Furthermore 1/3 of the patients suffering from GD develop symptoms of Graves’ opthalmopathy (GO). GO is a disease of orbital tissues with enlargement of extraocular muscle and adipose tissue, and intraorbital inflammation. Smoking is a very strong risk factor in development of GO. Symptoms in GO results in decreased quality of life.
Molecular mechanisms behind GO are not fully understood. The aim of this study was to investigate gene variants predisposing to GD and/or GO, and to determine how smoking contributes to the development of active GO.
We found gene variants in BTG2, CYR61, ZFP36 and DUSP1 to be associated with GD and/or GO. These genes are known as “immediate early genes” and have an important role in adipogenesis. Adipogenesis is a keyprocess in GO. We also found that IL-1β, IL-6 and the following immediate early genes, CYR61, EGR1, PTGS2, ZFP36 and DUSP1 were higher expressed in smoking patients with active GO compared with non-smoking patients with active GO.
Mapping of the pathological mechanisms in GO and identification of risk genes in GD and GO may result in more specific treatments and patients may be spared suffering from the many adverse effects of existing treatments. Autoimmune mechanisms and mechanisms behind risk factors such as smoking may be shared with other autoimmune diseases like diabetes type 1 and rheumatoid arthritis which may result in novel treatments of autoimmune diseases.},
  author       = {Shahida, Bushra},
  language     = {eng},
  note         = {Student Paper},
  title        = {Identification of markers and genes of importance in graves' disease and associated opthalmopathy},
  year         = {2013},
}