Sunday, December 27, 2009

Research News

[Note: This post is a little longer than normal, but for those interested in Kennedy's Disease research, I felt anything shorter might not be sufficient]

For those of you that use Google Alerts or some other notification service to keep track of Kennedy's Disease research, you might have noticed that over the last few weeks there has been 2-to-5 articles a day. This is extraordinary considering how rare the disease is. If you do follow Kennedy's Disease research, you might also be interested in Huntington's Disease research since the two diseases are similar in many ways.

On Christmas Eve, BBC News reported, "A molecular switch that can prevent Huntington's disease from developing has been found in mice."

Even though there are some differences in the two diseases, the first portion of the article sounds almost like an explanation of Kennedy's Disease. "Huntington's disease - a neurological condition that starts to show in mid-life and slowly impairs a person's ability to walk, talk and reason. Children who have one parent with the condition have a 50% chance of developing it themselves and often it is passed on before people are aware that they have it. There is no cure for the illness and treatment focuses on managing the symptoms.

Study leader Dr William Yang said together the studies suggested a new direction of research into the formation and clearance of the Huntington protein in the disease process. "We were surprised to find that subtle modification of only two amino acids in this very large protein can prevent the onset of disease. "This finding suggests an exciting new avenue to develop therapeutics for Huntington's disease."

Huntington's Disease Association head of care services Cath Stanley said: "Although in the very early stages, this research offers an exciting avenue of exploration in the quest to prevent or slow down the disease process."

Although it is known that a protein mutation underpins the disease, it is not exactly clear how that mutation causes the damage seen in those with the condition. In the latest study, researchers found a small section of the mutated protein that can be modified by phosphorylation - a chemical process in the body that alters how proteins function. In mice they found blocking this phosphorylation caused the animals to develop disease symptoms."

One of our board members, who is also a college professor, (also our resident expert on Kennedy's Disease) commented on this article: "I am generally not one for hyperbole, but today's BBC webpage had several articles about advances with HD that at first glance could also apply to SBMA.  The first linked article deals with the phosphorylation of HD protein and there is no guarantee that this will work with KD, but ... there is quite a bit of research that indicates that the phosphorylation of the androgen receptor affects the formation of symptoms in SBMA. This includes Mara's work with IGF-1 that we have and are presently funding.  It may be a good sign."

The comment on "Maria's work with IGF-1" is in reference to the current research of Maria Pennuto. In my earlier article, "Another Ray of Hope" I commented on her work using an insulin-like growth factor for muscles. Wikipedia explains how IGF-1 works: "IGF-1 is a primary mediator of the effects of growth hormone (GH). Growth Hormone is made in the pituitary gland, is released into the blood stream, and then stimulates the liver to produce IGF-1. IGF-1 then stimulates systemic body growth, and has growth-promoting effects on almost every cell in the body, especially skeletal muscle, cartilage, bone, liver, kidney, nerves, skin, hematopoietic cell, and lungs. In addition to the insulin-like effects, IGF-1 can also regulate cell growth and development, especially in nerve cells, as well as cellular DNA synthesis." Maria was a guest in the Kennedy's Disease Association chat room on November 07, 2009. The transcripts of the chat can be read by following this link: IGF-1.

Gary, another one of us fortunate men with Kennedy's Disease, sent me an article on the results of the Dutasteride trial. This is not new information to those that participated in the trial, but for those that missed the earlier article in the KDA newsletter, it does a good job of explaining the results of the trial. The key points in the article follow: "Patients derived some benefit from treatment with the 5-alpha reductase inhibitor, which converts testosterone into more potent dihydrotestosterone, as a result of a significant reduction in their number of falls and improvement in their physical quality of life. After 2 years, patients treated with dutasteride had virtually no appreciable increase in weight-scaled quantitative muscle assessment scores from baseline – the primary efficacy measure – whereas the scores in patients taking placebo declined by 5% from baseline. This difference was not significant, according to the investigators. On the Short Form-36 quality of life questionnaire (version 2), the physical component summary improved by about 14% from baseline for dutasteride-treated patients, which was significantly different from the 10% drop recorded in placebo-treated patients. Significantly fewer falls occurred among patients who were treated with dutasteride than among those who received placebo (9 patients reporting 40 falls vs. 16 subjects reporting 63 falls). However, patients who took dutasteride fared more poorly than those who took placebo on the mental component summary of the questionnaire, in which patients on placebo had a 10% improvement and patients on dutasteride worsened by about 7%. The muscle strength of men who were taking placebo declined by only 2% per year. "With such slow progression, longer trial duration or a more sensitive outcome measure may be needed to show therapeutic benefit," the investigators wrote on their poster."

1 comment:

  1. Thanks for this research update Bruce. I can't help but hope that dedicated researchers like Maria Pennuto, keep getting ever closer to an effective treatment and eventually a cure for KD!


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