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Gene Responsible for Down Syndrome

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News: Latest – distributed around Yorkshire August 16, 2016 01:13:42 PM

On Monday 22 August Rotherham Council will be working with Don Catchment Rivers Trust on a community clean up.

A team of researchers from Singapore and the United Kingdom have discovered an enzyme that regulates sperm and egg cell production, which may be linked to Down Syndrome, Patau Syndrome, and other chromosomal aberrations.

Humans have 23 pairs of chromosomes in every cell in their bodies, except for their reproductive cells or gamete cells (sperm or egg), which contain 23 chromosomes. The reason why chromosomes come in pairs is that one pair comes from the egg, and the other from the sperm. So when gametes fuse with each other, they end up as a single cell having two copies of each chromosome.

Gamete cells are produced by a process called meiosis — a type of cell division with two rounds of nuclear division, to make sure that the number of chromosomes in the parent cell is halved. Sometimes, though, errors occur during cell division, which may result to offsprings having abnormal number of chromosomes — a phenomenon called aneuploidy.

Aneuploidy causes Down Syndrome — the most common genetic condition, Patau Syndrome, and other genetic disorders. It is also the leading cause of miscarriage.

The research team, led by Dr. Prakash Arumugam from the National University of Singapore, noted how the process of meiosis can affect chromosomal irregularities: “Understanding how meiosis is regulated is of great importance to understanding the causes of aneuploidy and genetic disorders in human,” said Dr Gary Kerr and the team, writing in the journal Scientific Reports.