The Missing Link Between Fragile X Syndrome and Autism Spectrum Disorders

For a while, scientists have known that humans born with Fragile X Syndrome (FXS) have a high chance of being placed on the autism spectrum, but it was not known why this occurred. We knew that fragile X syndrome is characterized by an error in the production of the FMRP protein. We also knew that autism spectrum disorder (ASD) involves changes in normal brain development to effect social skills, empathy, learning ability, and speech. Therefore it was long theorized that the FRMP protein could be a factor in neurodevelopmental disorders, such as ASD.

Scientists have now obtained study results to support the idea that the FMRP protein does have an effect on embryonic development in the cortex of the brain. More specifically, FMRP is responsible for creating N-Cadherin. N-Cadherin helps neurons to reach their final positions in the cortex, and allow for the brain to be properly connected. Since this brain connectivity is lacking in someone with ASD, this may be a link to show the reasons why Fragile X Syndrome is highly associated with Autism Spectrum Disorder.

This study did not just give the reasoning for the link between FXS and ASD. The study also involved introducing the proper FMRP protein in mice embryos before birth to find out if it was possible to change the brain's wiring properly to potentially reduce or stop ASD from developing. It was shown that introducing the proper protein did have positive effects on the proper wiring of the cortex.

Those diagnosed with Fragile X Syndrome are highly affected by their disorder. With this, about 1/3 of those affected are also diagnosed with ASD. 15% are also affected by severe epilepsy. All three of these disorders are due to errors in development of the cortex. With this research, it could help treat or prevent Fragile X disorder in those with a genetic pre-disposition for it. Being able to help treat a disease with genetic factors is an important thing. It will allow for genetic reproduction without worry as to whether or not the offspring will inherit it.

Article: http://www.medicalnewstoday.com/releases/285578.php

The Connection between mtDNA and Breast Cancer Progression

          

A comparison of normal breast cells (top) versus breast cells with low levels of mtDNA

           A team led by Manti Guha and Narayan Avadhani at the University of Pennsylvania have found the connection between low levels ofmitochondrial DNA and the metastasis of human breast cancer cells. Previously, it was known that reduced amounts of mitochondrial DNA existed in patients with aggressive forms of cancer, but the influence of the low levels was not known. The work may allow for a greater understanding of the disease progression and help clinicians provide treatment that is specific for the varying prognoses.

            Mitochondria have several functions in cells. They function in apoptosis (which can allow for the death of cancer cells before metastasis) and cellular metabolism. Mitochondria also code for proteins that deliver energy. Yet, about 80% of individuals with breast cancer have reduced mitochondrial DNA.

            In the study, mtDNA was reduced in two ways: genetically lowering levels of mtDNA and employing a chemical to reduced DNA. Both treatments were administered to cancerous and non-cancerous breast cells. The cells that had reduced levels of mtDNA took on characteristics of cancer cells. The cells had disorganized structure, the cells metabolism was changed, and the cells were self-renewing. Further, these cells had surface markers that are present on breast cancer stem cells.

            Uncovering the connection between low levels of mtDNA and cancer is significant for several reasons.  mtDNA is now a possibility for a target for treatment of aggressive forms of cancer. Further, such a discovery can allow for more personal, specific cancer treatment. Additionally, the research provides insight into the connection between metastatic diseases and mtDNA levels. There is still much potential with such work, as the team would like to study tumor samples and in vivo mouse models.

            Another recent study has provided insight into the progression of breast cancer. Researchers have discovered the connection between Fragile X Mental Retardation Protein (FMRP) and the advancement of the disease. In mice, decreased metastasis resulted from decrease FMRP levels while secondary metastasis and spread of the cancer to the lungs resulted from high levels. Thus, it is believed that FMRP controls mRNAs affecting cancer progression. The discovery can be used to predict the spread of cancer and to reveal aggressive breast cancer.

            I found both articles were very enlightening and promising. As stated in the article on FMRP, the most common cancer in women is breast cancer. Even when the individual thinks they beat the disease, it can return and spread. For the individuals suffering from this terrible disease, there is little hope and much fear. These studies provide the hope that is lacking, in uncovering the mechanisms of the elusive disease and providing hope for more personalized care. I found the possibility of more personalized care as one of the most significant results of this study. Most individuals, myself included, want to be treated as an individual when seeking medical treatment and want to feel that treatment is most effective for their situation. This study may make that possible for those suffering from one of the most dangerous threats to human life. I found this that article was very intriguing, and I am interesting in seeing the results of the future research that the University of Pennsylvania team will conduct.

 Primary article: http://www.sciencedaily.com/releases/2013/11/131108124850.htm

Secondary Article: http://www.sciencedaily.com/releases/2013/09/130918090754.htm