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Neurofibromatosis
See Also:
Neurofibromatosis:
Overview & Types
Neurofibromatosis:
Causes & Risk Factors
Neurofibromatosis:
Signs & Symptoms
Neurofibromatosis:
Medical Tests & Diagnosis Methods
Neurofibromatosis:
Treatment Options
Causes & Risk Factors
To understand the causes and risk factors of NF, -
genetics and related terminology needs to be understood.
Each
cell contains 23 pairs of chromosomes of which
one pair differs in males and females, and the
rest of the 22 pairs called autosomes are the
same in both sexes. About 100,000 genes are
arranged on these 23 pairs of chromosomes in a
specific order. Different genes have different
functions. Gene mutations are changes in gene
structure caused by “mutagen” leading
to changes in gene instructions to the cell.
Neurofibromatosis is an autosomal dominant
disorder meaning, the neurofibromatosis gene
located on one of the 22 pairs of genes i.e.,
autosomes belonging to mother or father may cause
the disorder to appear in offspring (son or
daughter). |
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The chances of inheriting NF from an affected parent are
50-50 and a faulty gene causes neurofibromatosis.
Neurofibromatosis may also occur due to gene mutation and
genes may be mutated just before conception leading to
the disease in newborns. NF1 is located on chromosome 17
and NF2 is located on chromosome 22 (4) & (6).
It is important to note that the NF1 gene provides
instructions for making a tumor suppressor protein called
neurofibromin, which is produced by many cells such as
nerve cells and specialized cells surrounding nerves
(oligodendrocytes and Schwann cells). Mutations to the
NF1 gene leads to production of nonfunctional
neurofibromin that cannot regulate cell growth and
division resulting in formation of tumors called
neurofibromas along the nerves throughout the body (7).
Similarly, the NF2 gene provides instructions for making
another tumor suppressor protein called Merlin or
Schwannomin, which is produced in the nervous system by
particular cells called Schwann cells. The Schwann cells
surround and insulate nerve cells in the brain and spinal
cord. Merlin is believed to control cell movement, cell
shape and involved in inter-cell communication. Mutations
to the NF2 gene lead to production of a nonfunctional
merlin that cannot regulate growth and division of cells
resulting in tumors characteristic of neurofibromatosis
type 2 (8).
See Also:
Neurofibromatosis:
Overview & Types
Neurofibromatosis:
Causes & Risk Factors
Neurofibromatosis:
Signs & Symptoms
Neurofibromatosis:
Medical Tests & Diagnosis Methods
Neurofibromatosis:
Treatment Options
Article by Kona Vishnu, MS
Medical Writer,
OmniMedicalSearch.com
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