Doctors Treat Fatal Genetic Disease Before Birth

 Ayla Bashir, a 16-month-old from Canada, was the first-ever child to be treated for a rare genetic disease known as Pompe disease before she was born. Pompe disease is a rare genetic disease where glycogen builds up in the lysosomes of cells. The disease occurs when the person lacks the digestive enzyme called acid alpha-glucosidase (GAA), which is responsible for degrading glycogen in the lysosomes of the cell. There are two types of Pompae disease, one where it develops in infants, and one where it develops later in life. Symptoms of both include progressive muscle weakness and poor muscle tone. Also, the enlargement of the heart, liver, and tongue may occur. This disease was also present in both of Ayla's older sisters but they passed away. While in utero, Ayla received enzymes inserted through a needle into her mother's abdomen that was guided into a vein into her umbilical cord. She received 6 bi-weekly infusions starting just at 24 weeks. Usually, babies with this condition are treated with the enzymes after birth. However in some babies such as Ayla, their immune system blocks the enzymes from working in the long run. Because the enzymes were given to Ayla while in utero, the doctors hope that her immune system will not reject the enzymes. However, the disease is progressive and gets worse over time. Therefore only time will tell whether or not the enzymes will work and the disease will cease to progress.

'Stuttering' Mice May Help Unravel Mystery of Human Speech Disorder

Mice supposedly cannot speak, so they obviously cannot stutter. But, tinkering with a certain gene that is known to be involved in human speech, researchers have now created transgenic mice that produce pups with altered vocalization in a way that is similar to humans' stuttering. These mice can make a good model for a better understanding of stuttering, and can illuminate how mutations to the gene Gnptab can cause this speech disorder. 

Gnptab encodes a protein that helps to direct enzymes into the lysosome - a compartment which breaks down waste and recycles old cellular machinery in animal cells. Mutations to other genes in this system are known to lead to the build up of waste products and often result in serious diseases, such as the well known Tay Sachs disease. Although there are many known diseases and disorders in this area, how mutations in the gene Gnptab cause stuttering is still unknown. 

Neuroscientist Terra Barnes and her team produced mice with a mutation in the Gnptab gene and studied the ultrasonic vocalizations emitted from the pups when removed from their mothers. The team designed a computer system that listens for stuttering vocalization patterns. The program revealed that mice with the mutant copies of the Gnptab produced less frequent vocalizations and longer pauses than normal mice. However, the affected mice mice produced the same sounds in the same proportions as their wildtype siblings, which indicated they were still capable of producing normal sounds. 

Despite the vast differences in vocalizations between human and mice, the researchers believe this information can further our understanding of the causation of stutters and serve as a valuable model. But, as of now, it is still unknown how a single mutation to a common cellular housekeeping gene can result in stuttered speech. Although no evidence yet, it is possible that the neurons associated in speech are particularly sensitive to waste accumulation caused by missing lysosomal enzymes; yet, scientists are not even sure what neurons are involved in speech. 

I believe this research is only the beginning to a groundbreaking finding. When this research is solidified and scientists find out exactly how a single mutation to the Gnptab gene can effect stuttering, it will change the way speech-language pathologists and doctors treat patients with speech impediments. This will benefit patients and make for better clinical outcomes. One thing that surprises me is that scientists still are not sure what neurons are involved in speech. How is this possible in this day and age? I feel like we are so advanced in medicine and genomics at this point in time, it is hard to believe we still are not sure what neurons are involved in such an important part of life - speech. 

Cancerous Zombie Cells Eat Themselves in Order to Stay Alive

Autophagy means "to eat oneself".  Autophagy is a process of cellular recycling where cell organelles called "autophagosomes" encapsulate extra or dangerous material and transport it to the cell's lysosomes to be disposed.  Autophagy breaks down unneeded cellular components into building blocks of energy or proteins to be used in times when needed in order to survive or to stay safe from poisons and pathogens.  In this article, a University of Colorado Cancer Center study team realized that if this mechanism stopped working, the cancer cells may be able to save them selves from death inflicted from chemotherapies.  This finding has a big effect on cancer research.  First, it shows a mechanism where autophagy controls cell death.  Second, it reinforces the clinical possibility of restraining autophagy to sensitize cancer cells to chemotherapies. 

With this new discovery, hopefully now researchers can discover patients that could benefit from drugs that work with this mechanism.  This could be a big breakthrough with cancer research and could help save millions of people in years to come.



Original article: http://www.sciencedaily.com/releases/2014/04/140405233847.htm
To learn more about Autophagy, visit: http://mct.aacrjournals.org/content/10/9/1533.full