What is Prader-Willi syndrome?

Prader-Willi syndrome (PWS), an unusual genetic disorder that leaves one constantly hungry.

Prader-Willi syndrome is a debilitating condition that occurs in roughly 1 out of every 15,000 births. A nonprofit dedicated to PWS defines it as “a complex genetic disorder affecting appetite, growth, metabolism, cognitive function, and behavior.” The condition is marked by a dysfunction of the hypothalamus, which regulates hunger.

Scientists have narrowed down the cause of the condition to an abnormality of chromosome 15 but have yet to determine what sparks the abnormality in the first place.

The first signs of PWS begin in infancy, with weak muscles, difficulty feeding, and delayed development. By early childhood, the condition begins to manifest as an insatiable appetite, which often leads to overeating and, in turn, early-onset obesity. As people with PWS get older, they often experience intellectual disabilities (either mild or moderate) and exhibit specific characteristics such as small hands and feet, a narrow forehead, and short stature.

Due to their insatiable appetite, people with PWS are more likely to develop type II diabetes and to experience other obesity-related health conditions. According to the Foundation for Prader-Willi Research, the condition can be diagnosed through a blood test at birth, and early treatments such as human growth hormone (which people with PWS are deficient in) can help.

But as with many rare genetic disorders, scientists are still working to fully understand PWS. As it stands now, controlling the desire to overeat remains the biggest obstacle to a normal life.

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Fifteen genes behind intellectual disabilities identified

Scientists have discovered 15 gene mutation that can cause intellectual disabilities, a study has found.
 
Intellectual disabilities are often caused by a mutation that damages a gene, preventing the associated protein from functioning properly.

However, a mutation can also change the function of a gene. As a result, the gene in question acts in a completely different way.

Researchers discovered this mechanism in fifteen genes playing a role in the development of intellectual disabilities.

Genes are responsible for protein production in cells. A common cause of intellectual disabilities is a de novo mutation (ie a mutation present in a child, but not in its parents) damaging a gene so severely that it is no longer able to produce functional proteins.

The resulting protein defect will cause illness. In a number of disease-related genes, it is shown that a de novo mutation does not eliminate the gene, but probably alters its function. These mutations are only located on specific parts of the gene.

In order to find out how often this mechanism is involved, researchers combined the gene mutations in patients with a large international database comprising de novo mutations in patients.

"With our method, we were able to detect genes in which mutations not so much eliminate as affect the gene in another way," said  the researcher.

"We found fifteen genes in which mutations cluster closely together, twelve of which being associated with developmental disorders," said the researcher.

"We also found three new genes that are likely to play a role in the development of intellectual disabilities as well," he said.

The de novo mutations that were found only change a very small part of a protein. The function of the protein remains largely, but not entirely the same.

"The mutations are more likely to affect superficial parts of the proteins. These disturb interactions with other proteins and cause problems," he said.

"Although mutations eliminating genes were often thought to be the main cause of intellectual disabilities, mutations altering the function of genes are now shown to be an important factor as well," he said.

The three newly-discovered genes playing a role in the development of intellectual disabilities provide new diagnostic possibilities for patients.

"It is important that we have discovered a mechanism that has not yet been a focus of study. We expect this mechanism to play a role in a much larger proportion of patients with intellectual disabilities," he said.

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Special fats found in blood essential for human brain growth and function

A new research has revealed that there are certain special fats that are found in blood that are essential for human brain growth and function.

The research led by Duke-NUS Graduate Medical School Singapore showed that mutations in the protein Mfsd2a causes impaired brain development in humans as it carries a special type of fat called lysophosphatidylcholines (LPCs), which is composed of essential fatty acids like omega-3.

The researchers examined  that Mfsd2a mutations in two families in Libya and Egypt eliminated Mfsd2a's ability to transport LPCs that restricted to create enough amount of LPCs to be absorbed by the brain and as a result they faced severely reduced brain size and children died between one and six years of age.

The research conducted in North Pakistan observed that person, who had reduced Mfsd2a transport activity, had microcephaly, intellectual disabilities, impaired control of their limbs, and absent speech.

Dr David Silver, who led the research, said that their findings confirmed the essential role of LPCs in brain development and function in humans, and indicates that brain uptake of LPCs during foetal development and  in adult life is important.

The research is published in Nature Genetics journal.
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