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Scientists at the University of Manchester in England have discovered a new syndrome that runs in families and it could explain why some people become morbidly obese, experience mood swings and have psychological problems. The team studied six problem families from around the world that have been identified with the “chromosome 6 deletion.”
With only a small number of identified sufferers, the researchers said it isn’t possible to estimate how common the newly discovered syndrome may be and currently it doesn’t have a name.
The syndrome was discovered by a team of international researchers, including Dr. Siddharth Banka from the University of Manchester.
Along with his fellow colleague Dr. Eric Glasgow of Georgetown University Medical Center in Washington, Dr. Banka found the chromosomal deletion affecting cells in the hypothalamus that manufacture oxytocin.
Human cells contain 46 chromosomes each, these are divided into 23 pairs including two copies of chromosome 6, one inherited from each parent, forming one of the two pairs. Chromosome 6 spans around 171 million DNA building blocks, or base pairs and represents around 6 percent of the total deoxyribonucleic acid.
There are a number of different genetic conditions related to changes in genes, particularly in chromosome 6, but Dr. Banka thinks this is new.
Along with Dr. Glasgow, he found chromosome 6 deletion affects cells in the hypothalamus, a region in the brain responsible for the production of oxytocin. The issue with oxytocin production has behavioral effects, including the control of thirst and hunger, learning capabilities and social bonding.
The first family identified with the syndrome came from Manchester, England, while other families were identified in London, France, Italy, Spain and Sweden.
The identity of the families have not been released, however the studies show up to 10 members of each family with the condition, with ages ranging in age from 4 up to 61 years old.
A total of four people had learning difficulties, five were moderate in nature and one had a severe disability.
All but one member of the group had a birth weight above the 50th percentile. A 21 year old participant weighted 10.5 lbs at birth, which put him in the 98th percentile.
Dr. Banka added he knows of a few more patients already and expects more individuals to be identified by doctors around the world, now that the research has been made public.
The syndrome can be passed down to generations from the male or female line, and children who have a parent with chromosome 6 deletion have a 50 percent higher chance of inheriting it.
Dr. Banka added “Any race or background should be equally susceptible to it.”
The new condition does not yet have a name and the conventional method would be to name it after either the genetic sequence disorder or after the scientist who discovered it.
The condition will likely be known as 6q16.1 deletion syndrome or Banka syndrome. As the syndrome is so new, there has been extremely limited research done and there are no treatments or a list of symptoms available.
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