Showing posts with label Prader-Willi Syndrome. Show all posts
Showing posts with label Prader-Willi Syndrome. Show all posts
Wednesday, April 15, 2015
Fathers Sperm May Hold Clues to Autism Risk
Autism is a disorder that causes social, communication, and behavioral challenges. According to a recent study, a fathers sperm may hold clues about whether or not his children could be at an increased risk for autism. Although many experts believe autism is inherited, there is no genetic test to assess the risk of autism.
Scientists wanted to learn what happens before someone develops autism. To do this, researchers tested the sperm of 44 fathers of children with early signs of autism. As a result, they discovered 193 sites, many involved in brain development, where the presence or absence of an epigenetic tag was related to autism. They also found that 4 of the 10 sites that were closely related to autism were located closely to genes that were associated to prader-willi syndrome, a disorder that causes the same behavioral symptoms as autism. Researchers say that several of the altered epigenetic patterns were found in the brains of people with autism, supporting the theory that they might be related to autism.
I find it interesting that a disorder such as autism is able to be diagnosed just by looking at the fathers sperm, especially since it is a disorder that doesn't really show up until early childhood. Hopefully, doctors and researchers will look more into this study and be able to find the exact cause of autism.
Original Article
Monday, January 26, 2015
Prader-Willi Syndrome - Uncontrollable Congenital Disease that Causes Obesity
This article from the New York Times chronicles a 13 year-old named Rachelle (above) who suffers from Prader-Willi Syndrome as she goes into treatment. Prader-Willi Syndrome (PWS) is a congenital disease that causes reduced muscle-tone, obesity, limited cognitive capacity, and reduced sex hormones. People with PWS often suffer from many obesity-related diseases such as pulmonary-hypertension, Type-Two diabetes, and heart disease (among others). PWS is caused by a missing part of the 15th chromosome, generally missing from the Paternal side, if not the person will usually have two copies of the maternal chromosome 15. People with PWS often have learning disabilities and cognitive dysfunctions, however, they have a great spatial memory. A child with PWS can actually memorize their parents' credit card numbers and order food that way. Their whole brains are wired to acquire food, because they believe they are starving all the time, and they will do anything to obtain it.
This article also chronicles how the scientific community and pharmaceutical industry are studying how individuals become obese, including pathways between the stomach and hypothalamus. It is very interesting how they are using these extreme cases to figure out a hint about the genetic nature of obesity in the general population. There needs to be more research into this field of study to help individuals with this crippling disease and to further our knowledge of obesity.
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