The Drastic Effects of NDE1 on the Brain

The Drastic Effects of NDE1 on the Brain

There are a diverse range of conditions that might be responsible for mutations such as the abnormal exposure to mutagens or chromosomal irregularity. The cerebral cortex is the neural tissue that is the outside layer of the cerebrum of the brain. Its main functions are in remembrance, concentration, perceptual alertness, and the processes of thought and language. There has been a recent discovery pertaining to mutations on a gene affecting the shape belonging to the human cerebral cortex (ScienceDaily). Researchers from Yale School of Medicine, the University of Cambridge, Harvard and Northwestern universities based their research on a genetic analysis from a Turkish family and two Pakistani families; each family had an offspring that suffered from a severe form of microcephaly (ScienceDaily). Microcephaly is a neurodevelopment disorder, which pertains to the circumference of the head being more than two standard deviations smaller than the normal person’s head based on the age and sex (ScienceDaily). In this analysis, the children’s head was about 10 percent of the normal brain size. Mutations in the same gene, NDE1, were accountable for this disorder (ScienceDaily). NDE1 stands for nuclear distribution gene E homology, which deals with the centrosome duplication, development of localizing chromosomes (the movement directing the chromosome to a certain location) along with the mitotic spindle orientation ( the mitotic spindle alignment relative to the stages in the cell cycle)(Bakircioglu) .  Looking at the MRI, which is readily depicted in the article, there is a visible distinction that can be noticed when comparing a normal brain and a brain belonging to a microcephaly patient (ScienceDaily). It is to be expected that the patient with microcephaly has a brain structure that is distinguishably deformed and it shows the small brain size along with seeing a very basic cortex.  The gene plays a significant role on how drastic the size of the brain is and how it affects the brain and the brain functions. The research was able to conclude that the NDE1 is highly expressed during the developing cerebral cortex of the neuroepithelial cells at the centrosome. So, this article shows the significance of the centrosome of neurodevelopment (Bakircioglu).

Yale University. "Mutations in single gene may have shaped human cerebral cortex." ScienceDaily, 28 Apr. 2011. Web. 23 May 2011.

Journal Reference:

1.      Mehmet Bakircioglu et al. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. The American Journal of Human Genetics, 28 April 2011 DOI: 10.1016/j.ajhg.2011.03.019