Our Genes and how we get a Mutation -- GNE Gene

A little look into our human genes. In a human body there is one genome, 46 chromosomes, and between 75 to 100 trillion cells. In the human genome there are over 25,000 genes (according to some estimates and the number fluctuates).

Each of us have a slight variation in our genomes which makes us unique. In most instances, these variations do not cause a problem in our bodies. When they do however, we have what is known as a genetic mutation.

Genetic mutations can cause diseases which affect our bodies basic building blocks - proteins. Proteins have many functions such as strengthening our bones, grow hair and muscles, and regulate other functions in the body.

Hereditary Inclusion Body Myopathy (HIBM) is a rare disease and many rare diseases are caused by mutations in a single gene. With HIBM, we have variations or mutations occuring on the GNE gene.

I find it such a great wonder that researchers were able to locate and isolate this one gene (GNE) out of the thousands in our body which causes HIBM.
A note: I am a lay person trying to bring an understanding and awareness to HIBM.

References: http://www.genome.gov/Pages/Education/AllAbouttheHumanGenomeProject/GuidetoYourGenome07.pdf