An Unknown Indian

Thoughts of a FOSS enthusiast

Neurofibromatosis-post #2

Posted by Balachandran on December 16, 2006

       Hello folks, So this will be my second post on neurofobromatosis(NF) in a series of posts that I will be posting regarding this rare genetically acquired disease. In this post, we will concentrate mainly on the causes of NF. I had given a noverview of this disease in my previous post in this topic, Neurofibromatosis-post #1.

The genes in the human body are like a programmed stuff in that thy take care that all the parts of the body area proper and they work properly. If the gene has a misprint then, the part of the body controlled by that particular gene will be deective, the degree of which varies. So, NF is one such disorder caused by a misprint in the human gene.

So, usually a child with NF has often been passed a misprinted gene from either of its parents. This gene might have been dormant in the child’s parent but could have been active in the child resulting in NF. But there are also cases where the misprint occurs for the first time in the child it self fue to a misprinted gene in the formation ususlly because of ablormal differentiation and migration of neural cells during the early stages of embryogenesis. NF obtained by passing of misprinted gene from parents is called autosomal dominant inheritance.

Both NF-1 and NF-2 are caused by the above stated autosomal dominant  inheritance.But are caused by gene misprints in different chromosomes. NF-1 is normally caused by a misprint in chromosome 17 and is more commo. NF-2 is less common and is caused by a defective gene in chromosome 22. Both these genes are inherited in a dominant fashion, i.e. even one deective gene can bring the disease.

Among these 2 types, NF-2 is not easily observable externally and hence is not known to others. It is hence called “central neurofibromatosis”. But this is rarer of the two types and only less info is availble regarding this type.

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