PKD Research: Gene Therapy, Gift of Life: Life Changing Phone Call

PKD Research: Gene Therapy

iNews, United Kingdom, by Tom Bawden

Why are cure for obesity could be on the horizon

A cure for severe obesity could be on the horizon after scientists used a new kind of gene therapy to stop mice getting fat. They say the same technique could potentially be used to treat some cases of epilepsy, cancer, kidney disease and mental and physical developmental delays in children – although it is likely to be around a decade before any are adopted by the health service. Many cases of severe obesity in mice and in humans are driven by a genetic defect which leaves afflicted individuals with an insatiable appetite. This means that they keep on eating and become very overweight.

New technique

Now, scientists have found a way to correct that defect, putting a brake on consumption after a reasonable amount of food has been eaten. Mice with corrected versions of the mutated genes were up to 40 per cent lighter than their untreated counterparts and the effects were long lasting, they found. “The results were dramatic. This technique provides a potential cure for certain forms of obesity as well as hundreds of other diseases such as epilepsy, developmental delay, cancer and polycystic kidney disease,” said lead researcher Navneet Matharu, of the University of California in San Francisco.

The technique could also potentially be used to treat prostate, breast, colon, ovarian and lung cancer, as well as Parkinson’s and inflammatory bowel disease, he said. Severe obesity – where your body mass index is 40 or higher – is one of numerous diseases that can be caused by a mutation in one of the two copies we have of every gene, one from each parent. That dysfunctional gene leaves the second copy to do all the work – which it may not be strong enough to do on its own. In the case of severe obesity, the disease can be caused by a mutation of the gene that regulates hunger or of the gene that regulates satiety.

Pumping up the volume

This treatment worked by ‘turning up the volume’ of the remaining functional gene so that it can do its job effectively. This was done by taking one of the functional copies of the gene, boosting it to amplify its power and then inserting it into the hunger-control regions of the brains of mice by injecting it in a virus that has been rendered harmless.

The researchers are confident that the same technique can be applied to numerous other diseases where a mutation in just one copy of the gene – known as haploinsufficiency – can lead to diseases. “We believe our system could be applied to any situation in which having only one functional copy of a gene leads to disease. Our method demonstrates tremendous therapeutic potential for numerous diseases,” said Dr Matharu. Sometimes the mutation is a fairly minor cause of a disease and in others it can be the primary cause, researchers said. They point out that at least 660 genes – and potentially more than 3,000 – human genes are haploinsufficient, acting as a cause hundreds of diseases. The research is published in the journal Science.

ANALYSIS

It’s still early days but this obesity breakthrough in mice could have the potential to revolutionise the healthcare system for humans. Assuming that the new gene therapy technique also keeps down the weight in humans, it has the potential to significantly cut cases of severe obesity – which lead to numerous health problems and often early death. It also costs the NHS a fortune to treat the associated diseases. Ultimately, despite the potential to avert early death, medics and patients may baulk at the prospect of an injection to the brain to cure obesity. Time will tell on that one. But there are other cases where an injection to the brain would be well worth it – with extreme epilepsy being an obvious example.

Gift of Life

From Woodward News, Woodward, OK, By Elise Solloway Area Correspondent

The life-changing phone call: The generosity of a friend and a successful surgery

Kidney donor Randy Arrington and recipient Elise Solloway, Oct. 30, 2018 (one day after the transplant surgeries).

Editor's Note: Elise Solloway is a correspondent for the Woodward News. She recently received a kidney transplant after fighting a genetic kidney disease. She underwent successful transplant surgery in October and is telling her story this week in the Woodward News.

After finding a donor and being accepted for the transplant, the NZTI staff wanted us both to come to Oklahoma City the very next day to get pre-registered for surgery at Integris Baptist Medical Center, get pre-op lab and EKGs done, get surgery preps at the pharmacy, and for me to get my first batch of immunosuppressant (anti-rejection) medications to take in preparation for the surgery so my body would not reject Randy’s kidney.

Weeks of prayers by family, friends, and my church family were answered. In just a few months, I went from being a patient on the national and NZTI kidney transplant list to being scheduled to have a transplant from a healthy, generous, living donor who responded to my Facebook posts.

Having been a chronic worrier most of my life and dealing with many health problems over the years, I learned as an adult to put things in perspective when approaching life’s challenges. None of my previous fears had ever come true, so I gradually learned to not worry, just put things in God’s hands and leave them there.

After reading the pros and cons of a kidney transplant vs dialysis, and all the potential side effects of the various anti-rejection drugs and steroids, I simply entrusted it all to God. I pledged not to be a worrier.

On Monday, October 29, 2018, Randy underwent surgery to safely remove his healthy right kidney which was then transplanted into the left side of my abdomen to replace my two kidneys with advanced Polycystic Kidney Disease. We each spent four days on the 10th floor of Integris Baptist Medical Center where we received exceptionally good care.

Randy and I visited each other’s rooms and walked laps together on our floor beginning the day after our transplant surgeries. On our walks we also met another transplant patient and sometimes all three of us were walking laps and chatting in the hall.

While in the hospital I received about five hours of education related to warning signs of organ rejection, what each of my medications were for, and how to follow the daily schedule for taking the medications and recording my vitals. I also received information on what foods were safe and which ones were not safe to eat due to my new kidney and my various medications.

One day my surgeon asked if I had any children and if they had been tested for PKD. A new medicine approved by FDA has proven to slow down or even stop the progression of PKD and our son would need to start it as soon as possible.

My husband called our son to encourage him to get tested and start the medication. He was surprised to find out he had been tested 2-3 months ago and had no sign of PKD. He just had not notified us for some reason.

Because he did not inherit PKD from me, his children could not inherit it from him. We were overjoyed with relief. PKD ends with me and my sister in our family.

Since coming home from the hospital, Randy and I keep in touch via telephone and the Internet. We are both recovering nicely from our transplant surgeries. He will go back to work Dec. 10.

Randy is literally a part of my life now, and always will be. He gave me the gift of life by the ultimate gift of one of his healthy kidneys to replace my seriously diseased kidneys. I am eternally indebted to him and thankful to God for this gift.

For the rest of my life I will have a medically-necessary schedule to follow. I now live from 8 a.m. to 8 p.m. with a to-do list of medically necessary procedures. Every 8 a.m. I must monitor my weight, temperature, blood pressure, fluid in-take and out-put, and take multiple medications necessary to keep my new kidney working well so it will not be rejected by my body. Then at 8 p.m. I do some of the same things all over again. I must follow this schedule, even when traveling, by pulling over on the side of the road to record my vitals and take my medications at the designated times.

Everywhere I go I must take with me my backpack that contains my daily health log, all my medications sorted in an organizer, a thermometer, a blood pressure machine. It must also include my3-ring binder filled with my medical exam/lab summaries with diagnoses and medication/diet changes based on the lab work results.

For awhile, I will have weekly lab work drawn to monitor my new kidney’s function and my general health, then meet with my medical team to monitor the healing of my incision, then adjust medications and diet as needed. As my system stabilizes with the new kidney, medications will be reduced, but there will always be one or more immunosuppressants/anti-rejection medications to take.

Extra precautions are now necessary everywhere I go and whenever I am around other people. Hand sanitation and/or gloves plus face masks are necessary in some settings to reduce the chances of me catching a virus, infection, or bacteria since I have a weakened immune system and could have an organ rejection.

I must limit my exposure to cats, animal feces, reptiles, ponds, mulch, certain foods, and anyone who has had a live culture immunization within three weeks. Anytime I am exposed to sunlight I must wear sun-blocking clothes, sun screen, and wear a sun-blocking hat, due to my risk of skin cancers from the transplant medications I take. I must also watch my diet because I am now at higher risk of getting diabetes due to my transplant medications and medical history.