Queen - Bohemian Rhapsody English National Ballet

Peter Pan: Breakthrough of Duchenne Muscular Dystrophy

INTRODUCTION:

Duchenne muscular dystrophy (DMD)is one of the nine types of muscular dystrophy. It is passed down through family genes and is considered a genetic disorder. It is characterized by progressive muscle degeneration and weakness. Individuals who suffer from this genetic disorder lack dystrophin which is a protein that helps keep muscle cells intact.(B)

BACKGROUND INFORMATION:

Symptoms of DMD can be seen in an individual's early childhood between the ages of 3 and 5 years old. Even though, this disease primarily affects boys, there are rare cases in which girls are affected as well. At the age of 3, muscle weakness can be in hip muscles, the pelvic area, thighs including the shoulders. The skeletal (aka voluntary) muscles in arms, legs, and trunk are affected later on. Another sign of a symptom are enlarged calves. By early teenage years, heart and respiratory muscles are now affected also. (B)

French neurologist, Guillaume Benjamin Amand Duchenne, first described what DMD was in the 1860s.There was very little known about this disease until the 1986 where MDA-supported researchers found a particular gene on the X chromosome that when mutated in some form or another leads to DMD. The protein associated with this gene was found in 1987 as 'dystrophin'. Without or lack there of this protein muscle cells become fragile and are easily damaged. This disease is genetically passed down through an X-linked recessive inheritance pattern which is passed down by the mother (i.e: the carrier). (B)

These females who are DMD carriers have a normal dystrophin gene on one X-chromosome and an abnormal dystrophin gene on the other X-chromosome. Carriers do not themselves have symptoms of the disease although a minority do experience signs and are affected. Mild skeletal muscle weakness to cardiac involvement to severe weakness or cardiac effects beginning in childhood or adulthood are just some of the wide range of DMD symptoms.(B)

Boys diagnosed with DMD typically do no survive beyond their teen years- until now. Thanks to advances in medicine such as cardiac and respiratory care, the life expectancy has been increasing allowing for these individuals having the possibility of living a full life of going to college, getting careers, and themselves having children and marrying. Males with DMD reaching their 30s are nowadays much more common and even some who live into their 40s and 50s. Research on DMD is still continuing as MDA-supported researchers pursue research in gene therapy, exon skipping, stop codon read-through and gene repair.(B)

RESEARCH:

Recent research suggests a breakthrough for DMD.  Researchers were able to slow the progression of DMD in adult mice using recently developed techniques that have been developed in 2015. Gene- editing injects could one day give hope to those with inherited DMD.Three teams of US researchers showed how gene editing tool could be used to 'correct' mutations in an animals muscle DNA which prevented the production of the protein dystrophin. These series of studies lead to partial recovery of the animals tested. (A)

DMD affect ~70,000 individuals who are living in the UK, making this genetic disorder to be one of the most common and severe diseases. Primarily seen in early childhood in boys, they become more and more immoble as they age to their 20s or 30s. DMD causes muscle degeneration, disability, and ultimately premature death. Unfortunately, DMD is incurable. New research suggests that gene-editing will soon be able to treat those with DMD through the deletion of a small piece of scrambled DNA which is the area that prevents the gene from working normally. So there is still much hope in this incurable genetic disorder.(A)

The mice that were treated in the series of studies were not completely cured because the dystrophin gene activity was restored to a state that it would be expected to achieve adequate muscle function in a patient with DMD. The gene-editing tool, CRISPR-Cas9, is able to cut out a tiny piece of flawed DNA with surgical precision while avoiding complex and difficult traditional gene therapy. It can be applied to adults. It also does not need any controversial tampering with genes in eggs and sperm that are then passed on to future generations.(A)

The way in which this gene editing tool works is that it  harnesses a defense mechanism that is used against viruses to focus on specific targeted sections of DNA. An enzyme that acts like a molecular 'scissor' then cuts the section away. This process has been shown to work on human cells just about 3 years ago. Other recent research studies, used a harmless virus injected to deliver the gene-editing components directly into the muscles of mice with DMD. This resulted in a small section of defective protein-coding DNA being “edited out”. Natural repair mechanisms then stitched the two loose ends of the DNA molecule together to create a shortened but working version of the gene.(A)

Study performed by scientists at Duke Univ. discovered a treatment that restored dystrophin protein levels to 8% which is the normal level for non DMD individuals. Previous research have shown that even at a 4% levels of dystrophin protein are enough to have adequet muscle function. the treatment restored dystrophin protein to roughly 8% of its normal level. In using CRISPR to correct genetic mutations in the affected tissues of sick patients show through the studies and their results a possible path that can be followed. Much more research is of course needed because authors of 'Writing in Science' say that such an approach could cause neuromuscular disorders and other diseases.neuromuscular disorders and many other diseases. (A)

Scientists at Harvard Univ. led a second study where they used a red fluorescent marker to show how the gene-editing treatment altered the development of muscle fibers. A third study was conducted from the Univ. of Texas which demonstrated that the treatment worked best when the gene-editing kit was injected directly into muscles. Before clinical trials can involve any human participants, researchers and scientists alike have to find any unintended consequences or side effects of these type of treatments.(A)

Links:
(A)http://www.theguardian.com/science/2015/dec/31/breakthrough-offers-hope-to-those-with-duchenne-muscular-dystrophy
(B)https://www.mda.org/disease/duchenne-muscular-dystrophy

*Please note! These images are not mine. They were found on various tumblr sites! If any are yours please let me know so that I can give you credit for them! Also the people in the images have no relation to the diseases, illnesses, or cancers I write about. Thanks so much & enjoy~

Wonder Woman: Hormone Tests Women for Fertility

 INTRODUCTION:

There is a hormone test used to read women's fertility called the 'Anti-Mullerian hormone' or 'egg timer' test. Anti-Mullerian hormone gives women a rough estimate of the number of eggs she will have for each month that are viable. Just not to be confused, this test provides women with the knowledge of how many eggs she has, however NOT the quality of her eggs. The results of this test help specialists and pathologists an idea of what drugs best qualifies for each and every women specifically. (A)
 
Anti-Mullerian hormone (or AMH) is produced by granulosa cells in ovarian follicles. Made in the primary follicles, where the follicles are microscopic and are unable to be seen with an ultrasound. AMH production is highest in the pre-antral and small antral stages of development. As the follicles grow, production of AMH decreases then eventually stops. Once the follicles reach over 8mm, there is no more production of AMH. Levels of AMH are constant and an AMH test can be performed on any day of the woman's cycle. (B)

Because AMH is produced in the small ovarian follicles, blood levels of this substance have been used to attempt to measure the size of the pool growing follicles in women. Research has shown that the size of the pool growing follicles are heavily influenced by the size of the pool of those remaining primordial follicles. Subsequently, AMH blood levels are used as a close estimate of the size of the remaining egg supply/ ovarian reserve. A Normal AMH level would be. There are some problems involved with interpretation of AMH hormone levels. Because the test has not been in routine use for many years, the levels considered to be "normal" are not yet clarified and agreed on by all experts. (B)

Ovarian Reserve Testing Methods: Anti mullerian hormone is one potential test of ovarian reserve. There are other tests that are currently used for evaluation of the remaining egg supply. None of the tests are perfect, and fertility specialists will often use a combination of tests to try to get a better estimate of the size of the remaining egg supply.( Note: Anti mullerian hormone has also been referred to (mostly in the past) as "mullerian inhibiting substance", or MIS.) (B)

As women age, the remaining microscopic follicles decreases, their blood AMH levels, and number of ovarian antral follicles visible on the ultrasound also decreases.  Women with high AMH hormone values and those that have few follicles remaining are close to menopause and have low AMH level.s Women with higher AMH levels respond better to ovarian stimulation for IVF and have more eggs retrieved. Having more eggs gives a higher success rate. (B)

For over a decade this test is responsible for inaccurate readings of women's fertility. Study from Australia told informed the public about this alarming news. However, fertility experts are saying not to panic because the Anti-Mullerian hormone test has been indeed taken off the market 3 years ago and hasn't been used since. This test has been replaced by much more accurate and updated versions. (A)

Within 'The Journal of Assisted Reproduction and Genetics' the fertility treatment organization Genea published their study of comparing the original test and protocol with the new revised test and protocol. The results showed that the original protocol underestimated fertility by an average of 68%. The Genea Study was the first to use natural conception levels to create an Anti-Mullerian reference range. (A)

RESEARCH:

The study involved 492 women whose analyzed Anti-Mullerian hormone levels showed that they were able to naturally conceive being of ages 20 to 44 years old. This group of women used the original and revised Gen II tests. The results showed and subsequently added to the existing evidence that the inaccuracies of the original test were in fact a reality. (A)

The VP of Fertility Society of Australia and professor of obstetrics and gynaecology at the University of NSW, Michael Chapman, states that, “However, I would say that Anti-Mullerian hormone test results should always be interpreted by a specialist, because it’s not a black-and-white test and should not be interpreted as such,” He assures women that the current methods of testing have been proven accurate to give stable results. Other factors are also considered beyond this test because fertility specialists will always get a few surprises of women's hormone levels here and there including their response to drugs given to them specifically for their hormone levels. (A)

CONCLUSION:

The Genea medical director, Professor Mark Bowman, strongly suggests that women, although the current tests are relatively stable with accurate readings, should always get expert input either through the pathologists and the interpretation of specialists so that the results they get does not shock or give them any unnecessary panic. (A)

LINKS:
(A)http://www.theguardian.com/society/2015/dec/18/womens-fertility-underestimated-by-68-in-highly-inaccurate-hormone-test
(B) http://www.advancedfertility.com/amh-fertility-test.htm


*These Images are NOT mine! They were found on various Tumblr sites~ If any are yours please let me know so that I can give you credit for them~ Thanks so much! Enjoy

Throwback Thursday: Steve Jobs' 2005 Stanford Commencement Address

Florida Project: Stem Cell Provides Cure for Type 1 Diabetes

What is Type One Diabetes/ Juvenile Diabetes? : 

It is usually diagnosed in children and young adults. Only 5% of people with diabetes has this form. In Type One diabetes, the body does not produce insulin. The body breaks down the sugars and starches eaten into a simple sugar called glucose which is used for energy. Insulin is the hormone that the body needs to get glucose from the bloodstream to the cells of the body. Insulin treatment and other treatments are used to live long and healthy lives. (B) Living with T1D is a constant balancing act. People with T1D must regularly monitor their blood-sugar level, inject or continually infuse insulin through a pump, and carefully balance their insulin doses with eating and daily activities throughout the day and night.(C)

Type 1 diabetes (T1D) is an autoimmune disease in which a person’s pancreas stops producing insulin, a hormone people need to get energy from food. T1D strikes both children and adults at any age and suddenly. Its onset has nothing to do with diet or lifestyle. Though T1D’s causes are not yet entirely understood, scientists believe that both genetic factors and environmental triggers play a role. There is currently nothing you can do to prevent it, and there is no cure.(C) Scientists believe they may have moved a step closer to a cure for the type of diabetes that develops in childhood and usually leads to a lifetime of insulin injections.(A)

2016: The Possible Cure?:

Type 1 diabetes is usually diagnosed in children and young adults, and was previously known as juvenile diabetes. Only 5% of people with diabetes have this form of the disease.
In type 1 diabetes, the body does not produce insulin. The body breaks down the sugars and starches you eat into a simple sugar called glucose, which it uses for energy. Insulin is a hormone that the body needs to get glucose from the bloodstream into the cells of the body. With the help of insulin therapy and other treatments, even young children can learn to manage their condition and live long, healthy lives.
- See more at: http://www.diabetes.org/diabetes-basics/type-1/#sthash.DWtANr2q.dpuf

Type 1 diabetes is usually diagnosed in children and young adults, and was previously known as juvenile diabetes. Only 5% of people with diabetes have this form of the disease.
In type 1 diabetes, the body does not produce insulin. The body breaks down the sugars and starches you eat into a simple sugar called glucose, which it uses for energy. Insulin is a hormone that the body needs to get glucose from the bloodstream into the cells of the body. With the help of insulin therapy and other treatments, even young children can learn to manage their condition and live long, healthy lives.
- See more at: http://www.diabetes.org/diabetes-basics/type-1/#sthash.DWtANr2q.dpuf

By transplanting stem cells in mice with a 'reverse of the equivalent type 1 diabetes' allows for the replacement of cells in the pancreas which are damaged and therefore unable to produce insulin due to T1D. Without insulin, the body has difficulty absorbing sugars such as glucose from the blood. The disease usually first shows in childhood or early adulthood and used to be a killer, but glucose levels can now be monitored and regulated with insulin injections. These damaged B-cells (cells that normally produce insulin) are the prime targets of stem cell experiments. This is much more difficult than it sounds because Beta Cells/B-cells do not readily regenerate. (A)

Researchers in California reportin the 'Writing in the Journal Cell Stem Cell', Gladstone Institutes in San. Fran described how they collected skin cells known as fibroblasts from lab mice. They then treated the fibroblasts with unique cocktail of molecules and reprogramming factors. The cells were transformed into endoderm-like cells. These endoderm cells are found in the early stages of an embryo that eventually mature into the body's major organs (including the pancreas). (A) Another chemical cocktail was also used to transform the endoderm-like cells  into early pancreatic cells (aka: PPLCs). The initial goal was to coax PPLCs to mature into cells similar to B-cells to respond to the correct chemical signals and secrete insulin. Results of initial experiments which were performed on petri-dishes showed that they did do just that. (A)

The team then injected these cells into mice that had been genetically modified to have high glucose levels, mimicking the type 1 diabetes condition in humans. In just one week post-transplant the animals' glucose levels began to decrease approaching normal levels. Once the transplanted cells were removed there was an immediate spike in glucose levels. This showed the direct link between transplantation of PPLCs and reduced hyperglycemia (aka: high glucose levels). Two months post- transplant, the California researchers found that the pancreas like cells had turned into REAL fully functioning insulin secreting Beta cells had developed in the mice. These results show and prove that one day there might be a cure for type 1 diabetes in humans. (A)

Links:
(A)http://www.theguardian.com/society/2014/feb/06/scientists-closer-stem-cell-cure-type-1-diabetes
(C) http://jdrf.org/about/about-type-1-diabetes-t1d/