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article imageStudy of zebrafish helps boy with rare disease

By Tim Sandle     Oct 20, 2014 in Science
A study into zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles. Although no cure is imminent, the study could pave the way to alternative approaches for dealing with rare genetic diseases.
The boy was suffering from inhibited development, fevers, seizures and slow growth. He also had poor head growth. The condition is termed rare microcephaly syndrome. Two of the boy's uncles shared many of these symptoms, which suggested a genetic connection (an X-chromosome issue, since the same effect did not appear in the female members of the family).
With the study, scientists located a mutation carried only by the affected males and their mothers. The mutation was found within a gene called RPL10. In order to confirm that this gene was indeed the cause, experiments were required. For this zebrafish were used. Laboratory studies found that when the gene is suppressed in zebrafish, the animals developed smaller heads.
Zebrafish are ideal models for studying genetic diseases; for example, the fish is capable of bone regeneration. The zebrafish is native to the streams of the southeastern Himalayan region, and is found in parts of India, Pakistan, Bangladesh, Nepal, and Burma. The fish is named for the five uniform, pigmented, horizontal, blue stripes on the side of the body, similar to a zebra's stripes.
Having identified the disorder does not mean that there is a cure for the boy. However, understanding the genetic basis could pave the way for a cure in the future for the condition.
The study was run by Susan Brooks of the Rutgers Robert Wood Johnson Medical School. The findings have been published in the journal Genetics. The paper is titled “Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans.”
More about Zebrafish, Rare disease, Genetics, Genes
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