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Lmna Research Paper

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LMNA Gene:

The LMNA gene is a member of the intermediate filaments type V, lamins. It is placed at chromosome 1, position 22. The LMNA gene codes for two proteins, lamin A and lamin B. These two protein are similar in amino acid sequences, but a slight difference make lamin A longer than lamin C. These proteins main function is to support the shape of the nuclear lamina (envelope), the fibrous structure surrounding the nucleus. The nuclear membrane regulates the the exchange of molecules through the nucleus. Scientist also believe that the nuclear lamina regulates the expression of certain genes(LMNA, 2013). When the LMNA gene is damaged due to mutations it can produce altered lamins. These lamins can disrupt the shape of the nuclear lamina. With a distorted nuclear lamina the development of the peripheral nervous system and skeletal muscle system is interrupted. It can also prevent fat infiltration of muscle and bone marrow depending on the type of mutation that occurred in the LMNA gene (P02545 - LMNA_HUMAN, n.d).

Progeria Muttation: …show more content…

This lamin acid is called progerin. Progerin produces a poorly structured nuclear lamin that does not allow for molecules to enter and leave the nucleus properly. This can makes a build up of progerin inside the nucleus that causes the nucleus to malfunction and die prematurely (LMNA, 2013). This is what causes the childhood onset of extreme aging that is seen in progeria patients. The quickened pace of cell mortality causes physical changes in the patient that is seen in the

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