There are many chronic illnesses
that are referred to as autoimmune diseases such as multiple sclerosis,
amyotrophic lateral sclerosis (ALS) and pemphigus vulgaris for example; the etiology
of these diseases originates from the patient’s immune system attacking normal
tissue.
ALS is a disease that presents as
a progressive degeneration of the normal function of motor neurons resulting in
paralysis and death. It has been shown
that mutations in the C9ORF72 gene are commonly found in ALS and frontotemporal
dementia. This gene is located on the
short arm of chromosome 9 in humans.
This gene contains the information for the production of the C9orf72 protein. Furthermore, in animal model studies using
the mouse, it has been found that mutations in this gene result in
Autoimmune-like symptoms.
Transplantation of normal murine bone marrow positively impacted diseased
mice with this mutation and bone marrow transplantation of diseased mice into
normal animals alternatively resulted in symptoms of autoimmunity. These latter results led investigators to
suspect that the C9orf72 gene is normally
active in hematopoietic cells – cells residing in the bone marrow that produce
circulating blood cells - in suppressing autoimmunity.
Recent findings have clearly
established that mice that harbor mutations in the C9orf72 gene that result in the loss of function of the C9orf72 protein gene product develop
the following symptoms –
- splenomegaly – enlarged spleen
- neutrophilia – increased population of neutrophils in the circulation
- thrombocytopenia – decreased numbers of platelets
- increased expression of inflammatory cytokines
- severe autoimmunity.
These
diseased animal suffer a high mortality rate.
These data represent strong
evidence that the C9ORF72 gene plays a very important role in the suppression
of autoimmunity and may prove to be of future therapeutic value.
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