Gene Mutations Found To Be Causing Pediatric Seizure Disorders

A new genetic mutation has been found that may be causing deadly seizure disorders in infants and young children. Epileptic seizures are caused by neurons firing, which create bursts of electrical activity in the brain. This study focused on developmental epilepsies, specifically early myoclonic encephalopathy, Ohtara syndrome, and infantile spasms. Developmental epilepsies occur after birth, in some cases only hours after, and can be fatal. Individuals who survive the seizures typically suffer from developmental disabilities, autism, and seizures for the remainder of their lives. 

The gene containing the mutation, salt-inducible kinase 1 (SIK1), has been found to play a role in gene and protein interactions in neurons that help to cause seizures. SIK1 regulates another gene, myocyte-specific enhancer factor 2C (MEF2C), which is known to be associated with severe seizures. Cellular machinery in neurons are interfered by mutated versions of these genes and hinder proper development.

          This study is vital to those who have children who suffer from developmental epilepsies. It can help to identify which patients may benefit from specific treatments and which will not. It is critical to identify which individuals will not benefit from treatment, as the drug used most often to treat development epilepsy is Adrenocorticotropic hormone (ACTH). ACTH is very expensive and can lead to severe side effects, and is only effective in about forty percent of cases. This study will improve treatment of patients suffering from developmental epilepsy and hopefully save those, who would otherwise not benefit from the treatment, from the drugs side effects.

Related Link

Primary Care Pediatricians Avoid Genetics Examinations in Patient Care

A study published in Genetics in Medicine shows many pediatricians have a difficult time using genetics in their routine care. After research in multiple specialties, they have concluded the greatest obstacle is the doctors’ general ignorance in the field of genetic medicine. This is not surprising due to the exponential daily advancement in genetic information and technology. To solve this crucial situation, the best way is to educate primary physicians with a helpful guideline and educational system.  

This article stood out to me because I’m currently in the pre-medical concentration. I have heard stories of incompetent doctors and this news confirms my doubts. I understand physicians have extremely busy schedule; however, it is also important to keep up with recent research and discoveries to better their preventive and care practice. A doctor who never stops learning is one I will strive to become. 

Source article : http://www.sciencedaily.com/releases/2014/09/140911151653.htm

Secondary article: http://www.sciencedaily.com/releases/2013/11/131119130835.htm

Study of UK Children Finds Low Vitamin D Linked to Fatty Liver Disease

A UK study investigating a relationship between low vitamin D and non-alcoholic fatty liver disease (NAFLD) in British children has identified a genetic variant associated with the disease's severity. The research is being done by King's College Hospital Pediatric Liver Centre and the University of Surrey's School of Biosciences and Medicine has analyzed the medical records of 120 pediatric patients with NAFLD. The number of NAFLD cases are increasing because kids are choosing to play indoors rather than outside. Jean-Francois Dufour, a professor at the University Clinic for Visceral Surgery and Medicine, says, "Identifying a gene that impacts or alters the disease is a step in the right direction and could potentially lead to the development of new treatments or diagnostic techniques to address this growing issue." NAFLD is rapidly becoming the most common liver disease worldwide. It is estimated to effect 10% of Europe's pediatric population and around 20%-30% in the entire European population. Vitamin D was low all year round in the patients, not just in the winter. The study also found a variant of the NADSYN1 gene which is associated with NAFLD severity in patients.
I found this study to be very interesting. Before reading this article, I never heard of NAFLD. The fact that it is increasing in the pediatric population is terrible. It is definitely because children nowadays rather play video games instead of sports or anything else outside. It is incredible how much technology has helped and hurt humans.

Gene Therapy as a Cure for Fatal Bone Diseases in Children?

This article detailed current research about how, although low bone density and osteoporosis is quite prevalent in the public eye, that excessive bone density and subsequent diseases also present a significant medical challenge. The article reported that such diseases of excessive bone density, such as malignant infantile osteopetrosis, or MIOP, are only currently treated with a risky transplant procedure, but research has shown that gene therapy might provide a safe and effective alternative. This therapy would allow experts to extract stem cells from the patients themselves, eliminating any external donor, and have the non-functioning gene replaced with a working copy, and then reinserted into the patient. Researchers note that the method is not risk-free, and that much work is still required before the technique is ready for practical application.

The article and the research it entails were intriguing in that they display great promise in aiding children suffering from such diseases as malignant infantile osteopetrosis (MIOP). I enjoyed the fact that experts discuss the possibility that once such gene therapy, which does not require external stem cell donors (a fact that I thought would limit the critics of such therapy), is proven successful at treating MIOP, there are several other similarly related ostepetrosis diseases which could also be treated with such therapy. I thought this was interesting due to the fact that much controversy surrounds stem cell research as violating certain natural rights by extracting external stem cells, however in this case, no external stem cell donors would be required. Though this is quite notably early in the development and implementation of such research, I look forward to the results of studies and their practical implementation into alleviating and treating such diseases in the near future.