Drug Shows Promise Against Rare Condition That Stunts Kids' Growth

 

This article writes of a new medication said to aid children with achondroplasia, which is a rare bone disorder that results in disproportionate trunk and limb size. Their maximum height is on average 4' 6. There were 120 children who were administered this new drug, vosoritide. The hope was that it will give the possibility of greater height and improved proportions. They were administered this drug for two years with excellent results. The patients ranged from ages 5 to 18. Before this study, these children averaged 1.67 inches in height within a year. Then with one year into the trial, the children had gained an average height of 2.23 inches. The next year added an extra 2.19 inches of height, on average. The drug also aided in improving body proportions and did not disappear over time. 

I chose this article because of its positivity. I was happy to hear that this study was in fact a success and nothing waned over time. I am sure people with achondroplasia become sad at times, and having the possibility of this new drug as treatment is amazing!

CHRFAM7A Gene Explains Why Alzheimer’s Drugs Fail in Humans

Alzheimer’s disease is an irreversible and progressive brain disorder that destroys memory and thinking. This disease eventually effects a person’s ability to complete simple, everyday tasks. Alzheimer’s is currently ranked as the sixth leading cause of death in the United States. Although scientists do not understand what causes Alzheimer’s disease, some believe a genetic mutation may be the cause. 

Photo credit: https://www.drugwatch.com/health/alzheimers-disease/

According to Medical News Today, Dr. Kinga Szigeti, director of the Alzheimer’s Disease and Memory Disorders Center at the University of Buffalo, found a gene that helped explain why Alzheimer’s drugs appear useful in animals but not in humans. The gene, CHRFAM7A is a fusion gene for alpha-7 nicotinic acetylcholine receptor- a neurotransmitter receptor, acetylcholine, and kinase. Acetylcholine has been linked with the development of Alzheimer’s and plays a crucial role in memory and learning. In Dr. Szigeti’s recent study, she and her team focused on how this CHRFAM7A gene relates to drug effectiveness in humans. 

The study concludes CHRFAM7A is present in two variations, a functional one and one that is not translated into a protein. Even though this gene is specific to humans, only 75% actually have it. Further, three out of four of Alzheimer’s drugs that are available target all of the acetylcholine receptors. Ironically, drugs that specifically target the alpha-7-acetylcholine receptor, have failed in humans. Essentially, an individual's genotype determines what drugs demonstrate to be effective.

"People who don't have the [CHRFAM7A] gene respond better to the drugs available now," Dr. Szigeti reports, "our work confirms that Alpha 7 is a very important target for treating Alzheimer's but the right model — a human model — has to be used when testing new drugs.” In other words, more personalized drugs are necessary for treatment because of the differentiation in humans. A drug may work for 75% of people with Alzheimers, but fail in the remaining 25% or vice versa. 

This article is very interesting but also may raise a lot of concerns that I do not think people are ready to talk about. A few questions that come to my mind would be (a) When is it acceptable to test drugs on people? (b) Would drugs have clinical trials and patients willingly test different methods? (c) How does this affect the pharmaceutical industry and will be personalized drugs become available? Other than human testing, I think this CHRFAM7A gene and its explanation for drugs presents a lot of opportunities for the future of genetics and pharmaceuticals. 

Gene-K-O Out of Nowhere!

A study taken place in Pakistan examined the DNA of over 10,000 people for those who had two nonfunctioning gene copies likely caused by mutations that inactivate, or knock out, certain genes. According to the article, “The study suggests that human knockouts could prove valuable evidence for understanding how genes work and for developing drugs.” Studying how the knockout mutations affect certain traits (such as heart rate, blood pressure and blood levels of sugar, cholesterol, hormones or other substances) could point to genes that are potentially safe and effective targets for new drugs.

This is an incredible study that will in turn lead to future strides in the understanding of human diseases and the genetic basis for such inquiries. Reading up on the latest genetic news in science websites is giving me optimism for the future in terms of knowledge of current unknowns and I am excited to be a part of the next generation of science majors who will contribute to such a crucial field of study.

Primary article: http://www.nature.com/nature/journal/v544/n7649/full/nature22034.html

Original article: https://www.sciencenews.org/article/gene-knockouts-people-provide-drug-safety-effectiveness-clues

Generic Version of Copaxone, Multiple Sclerosis Drug, Is Approved

          On Thursday, the generic substitute for Copaxone has been approved by the FDA. Copaxone is a drug used for multiple sclerosis. In the last several years, the prices for drugs geared towards multiple sclerosis have tripled, even as more brand-name products appear in the market. A generic option would give a pricing edge, but this depends on the price and date it will go on sale. The price of all drugs drop about 90% when there are multiple generic options; however, since there is only one, the discount will not be as drastic. None of the drugs that treat multiple sclerosis have a generic equivalent. Multiple sclerosis is a nerve condition that causes blurred vision and difficulty walking. Teva manufacturers Copaxone, a brand name, when it usually manufactures generic drugs. Teva has used some aggressive plans to keep their wide consumer base. Teva has called and took their patients out to dinner, created a more concentrated drug to decrease the number of injections per week, and lowered the price. How Copaxone works is not clear; however, it is known that the main drug in there is made up of 4 amino acids. When the generic drug is released, some insurance companies may recommend that the patients try the generic brand before the name brand. Teva currently has a patent on Copaxone until September 1st, but the federal court invalidated it. They took their case to the Supreme Court for reevaluation, and the generic drug will have to wait in accordance to the court's descision or until September. Other companies, such as Myland and Synthon, are trying to get the approval for their generic Copaxone versions.
         I think it is great that the first generic drug for multiple sclerosis is almost available to the public. The prices for name-brand drugs are extremely pricey, and I personally always look for a generic brand. Competition will bring an economically beneficial solution for the people who really need the drug. They could the used the money save on other operations or medications.

Original: Link1
Supplemental: Link2

Parasites Mutate Their Host Cells Into Cancer Cells

In certain tropical areas there is a parasite called Theileria.  These parasites infect the white blood cells of mammals and cause their healthy cells to mutate into cancer like cells. These parasites mainly infect cattle. Once Theileria attacks the white blood cells it will let out a protein that is called Pin1. This protein allows for the mutation in the cells to happen. Scientists were actually able to create a drug that will take the cancer cells and return them back to normal cells.

This discovery is helping scientists further understand if and how parasites and cancer are connected. Dr. Helen Rippon head of worldwide cancer research was even saying that it has been proven parasites can cause cancer in humans. Schistosomiasis  is another example of a cancer causing parasite. A human infected with this parasite increases their rise of bladder cancer. Schistosomiasis infects about 240 million people worldwide.

This article is very interesting in explaining to readers how cancer can be caused by a parasite. It is also very intriguing in the fact that scientists were able to create an anti-parasite drug to cure the host cells. The article is proving that future research can probably pinpoint the cause of many more types of cancer and gives hope that more cures will be discovered.

Article: http://www.sciencedaily.com/releases/2015/01/150126112243.htm

AG3 new pathway to fight HIV

The term HIV brings fear to nymphos and is known to be one of the most deadly of all STD’s. Researchers from Northeastern University have found multiple properties of the protein AG3. AG3 is a protein that is known to chemically alter DNA to cause HIV to mutate; however, researchers have found that the protein AG3 acts also acts as a “roadblock” to prevent HIV to replicate DNA.

This new pathway of the protein AG3 stopping HIV can lead to multiple innovations of drugs. These different type of pathways also allow for the trial of other proteins to stop HIV.

http://www.medicalnewstoday.com/releases/269351.php

http://medusa.jrc.it/medisys/moreclusteredition/en/newsmedical-025cb66794a0444bf271281909da1b08.html

Possible Drug Cure for Mutations in Cancer

Nowadays everything seems to be linked to cancer. It has become a hot topic in the medical field as the race to find a cure continues. Research handle by Dr. Drmity Bulavin and his team of scientists at A*STAR’s Institute of Molecular and Cell Biology (IMCB) have identified an enzyme, called Wip1 phosphatase, that has the potential to eliminate the progression of cancer. During their studies, they had found that Wip1 phosphatase played a key factor in causing point mutations to occur in human cancers. During DNA replication in the body, these point mutations cause a base-pair in the DNA sequence to become altered, which can lead to an inadequate response to the drug treatment of the cancer.

Having discovered the mechanism for Wip1, scientists might be able to use this finding to develop an anti-Wip1 drug that inhibits the action of the enzyme. It would then, stop the growth of the cancer to restrict the amount of mutations, which happens to be a major cause in the recurrence of tumors that have become resistant to drugs. The Executive Director of IMCB, Professor Hong Wan Jin, believes that as Dmitry’s team advances in their research, they will be able to propose new and innovative ways in developing a potential drug to battle against one of the leading causes of death worldwide.

Original Article: http://www.sciencedaily.com/releases/2013/11/131108102745.htm