1. Using the two articles listed below, describe how BICD2 mutations can cause d

Question

1. Using the two articles listed below, describe how BICD2 mutations can cause defects in the function of spinal motor neurons in two paragraphs.

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

By Oates, E., Rossor, A.M., Hafezparast, M. et al.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675232/

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

By Kornelia, N., Martinez-Carrera, L.A., Holker, I. et al.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675237/

Thank you tons in advance!!!!!

Explanation / Answer

Mutations in BICD2 lead to congenital spinal muscular atrophy of dominant nature along with hereditary spastic paraplegia. Dominant congenital spinal muscular atrophy leads to abnormal development of anterior horn cells that shows pre-dominance of lowerlimbs. There are four mutations that occur in bicaudal D homolog 2 in Drosophila which is directly related to the disorder. The BICD2 protein interacts strongly with the dynein-dynactin complex and helps on sending out the cellular cargos necessary for neuron development, regulation and maintenance. There are two binding regions in the BICD2 where if there is a mutation, it enhance the affinity of BICD2 protein to the dynein-dynactin complex leading to impaired growth of the neurite. Hence, with this finding it is evident that the BICD2 associated disease has strong connection with dynein-dynactin pathway.

It was also found that if there is mutation in the BICD2 gene, it might lead to congenital autosomal-dominant spinal muscular atrophy. SMA is a heterogenous neuromuscular disorder which is caused by lower motor neuron degeneration. In this experiment or research program, three families were considered with pathogenic variants in the bicaudal D homolog 2 and in the affected individual it was seen that they displayed congenital SMA weakness in the lower limbs. The BICD2 is a golgin and moto-adaptor protein which helps in Golgi dynamics along with assistance in vesicular and mRNA transport. It was seen that In individuals suffering from congenital SMA, the BICD 2 levels were reduces and it is done by reduced larvae locomotion. The impaired locomotion is due to impaired clathtrin-mediated synthesis.

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