Researchers are an Interesting Breed

Because of my affiliation with the Kennedy's Disease Association (KDA), I have been fortunate enough to talk and chat (chat room) with many junior and senior researchers. Most of the time they talk way over my head (my limited level of understanding), but are always patient with me when I ask for a layman's explanation. The KDA is also fortunate to have a board member who is a college professor and who worked in a research lab at one time. This gentleman can explain these processes pretty well (in other words, I can usually understand them).

One thing I have discovered about researchers is their desire to understand (1) how things work, (2) why things do not work, (3) what has to be done to make something work that does not work, and, (4) if you cannot get it to work, is there some way to bypass it without doing any harm. They live in a different world than I do (fortunately for those of us with Kennedy's Disease) … one that focuses on "why" and "what if."

Diane Merry, Ph.D., from Thomas Jefferson University, in a recent chat about current research commented, "We'd like to let the AR (androgen receptor) do its 'day job' while preventing the toxic things (from happening)." Because of our mutated genes ("CAGs – the three pieces of DNA that are repeated and expanded in Kennedy's Disease"), the androgen receptor cannot perform its needed functions (day job).

Diane also commented that, "It will likely be that the best therapies in the short term are those that prevent its (the AR's) normal function as well as its toxicity, … For longer term, it would be nice to allow it (the AR) to do its day job, too!" So, some of the current research is focused on how to manipulate certain things to make the AR not do the toxic things it currently does because of the defect. There are certain FDA approved drugs that would inhibit the AR from functioning (thereby preventing many of the problems). However, in the longer term, it will be better to find a solution that would allow the AR to 'do its day job'. I understand this to mean that until researchers can find a way to make the androgen receptor function correctly, they hope to find a way to stop the AR from functioning (since it cannot function correctly with the mutated gene).

Even though these researchers often work twelve-plus hour days in their labs, they still have to find the time to apply for grants to continue their research. Without adequate funding, the labs would have to close or the researchers would have to abandon their Kennedy's Disease research and look for projects that are more readily funded (e.g., heart and kidney disease, cancer, ALS, and MS).

WOW! And, I was only concerned with how we were going to turn a profit during the latest downturn in the market. Seriously, I feel so fortunate that we have these dedicated people working behind the scenes trying to find that treatment or cure for Kennedy's Disease. These researchers are the unsung heroes in my book. They are the reason I still have hope.

For those who want to learn more about the androgen receptor, I have included below a definition and expanded explanation (with links).

Definition: The androgen receptor (AR) is a type of nuclear receptor which is activated by binding of either of the androgenic hormones testosterone or dihydrotestosterone. The main function of the androgen receptor is as a DNA binding transcription factor which regulates gene expression; however, the androgen receptor has other functions as well. Androgen regulated genes are critical for the development and maintenance of the male sexual phenotype. [Taken from Wikipedia]

Further Explanation: The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones. The receptors are present in many of the body's tissues, where they attach (bind) to androgens. The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. This CAG segment is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 36. [Taken from Genetics Home Reference]