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Pathophysiology of factor V Leiden gene mutation. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C.
Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor . [ 5 ]
This finding has been replicated in another study in mice and again in fish [10] [11] In some cases, excess heterozygosity can lead to decreased fitness. [12] The optimality hypothesis states too much variability in the MHC can result in a failure of T-cells to distinguish themselves non-selves, and thereby increase the risk of autoimmune disease.
The cancer stem cell model asserts that within a population of tumour cells, there is only a small subset of cells that are tumourigenic (able to form tumours). These cells are termed cancer stem cells (CSCs), and are marked by the ability to both self-renew and differentiate into non-tumourigenic progeny. The CSC model posits that the ...
The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity does not imply a homozygous state (which would require the presence of two identical alleles in the cell).
The cancer stem cell hypothesis proposes that the different kinds of cells in a heterogeneous tumor arise from a single cell, termed Cancer Stem Cell. Cancer stem cells may arise from transformation of adult stem cells or differentiated cells within a body. These cells persist as a subcomponent of the tumor and retain key stem cell properties.
Thromboembolism is a well-described complication of IBD, with a clinical incidence of up to 6% and a three-fold higher risk of disease, [31] [32] and the Factor V Leiden mutation further increases the risk of venous thrombosis. [33] Recent studies describe the co-occurrence between coeliac disease, in which IBD is common in venous thrombosis ...
Leukocytosis (elevated numbers of white blood cells) which may be present in the acute phase; Elevated erythrocyte sedimentation rate and C reactive protein are sometimes present. An obvious cause in the mouth (usually) such as a decayed tooth. Teeth that are tender to percussion, which may develop as the condition progresses.
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