Understanding how Mitochondrial Disease impairs the body

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AUGUSTA, Ga. (WJBF) – What happens – from a clinical standpoint – to a body with Mitochondrial Disease? 20,000 Americans get it a year, not a lot, so let’s raise some awareness, shall we? Dr. Richard Griner is the chair of the Department of Biological Services at Augusta University and Dr. Joseph Hobbs, the Chair of the Department of Family Medicine at the Medical College of Georgia at Augusta University explain the ailment.

Brad Means: Dr. Griner, what in the world happens to these cells where the energy-producing apparatus just malfunctions? Any idea, I know that there is no treatment, no cure for the disease. What happens inside that cell?

Dr. Richard Griner: Well, the cell lacks enough energy to do its basic job. So that would depend on the different cell type. Every cell requires energy to perform their normal functions, whether it’s transporting things in and out of the cell, synthesizing new proteins, replicating DNA, if it’s a muscle cell, powering the mechanisms that allow the muscle cell to move. So, when you have a disease of the mitochondria, you don’t make sufficient supplies of the ATP the cells need to power those different processes and the cell suffers.

Brad Means: Is it possible for enough cells to work properly to sort of mask the ones that don’t and keep you functioning properly? Or when one goes, they all go?

Dr. Richard Griner: These diseases, these groups of mitochondrial diseases are so different in their types, it’s certainly possible that some mitochondria are affected more than others, some cells are affected more than others. But for a whole tissue, like an entire muscle, it becomes a cumulative effect, from just how many mitochondria are failing to produce enough ATP.

Brad Means: Dr. Hobbs, what do you think is a good approach to this from a physician’s standpoint? Patti mentioned that she’s taking medicines to help each individual ailment as a result of this disease. Is that what you would do at the doctor’s office, say, let’s get you to breathe better, let’s get you to have less pain?

Dr. Joseph Hobbs: If you look at the therapy that’s out there, a lot of it lacks a lot of scientific rigor, with regards to whether or not it has impact or not. Some of the agents that are there are really targeted to places where some of the products that you need for the cell powerhouse to work, we know that it’s slow, replacing those particular products actually may have some impact. But if you look at the studies that have been done, they are not as rigorous as they need to be, in order to make sure about that. And one of the reasons is that people end up taking cocktails and things of this nature is that, what’s in the cocktails are relatively innocuous otherwise, and we have anecdotal information that might suggest that they work, but the studies are just not sufficient enough for us to be able to say that, here is an agent, and we give this agent, and then qualify people who are going to get better because of this. And so, we are making empiric decisions as to how we would treat those individual patients when we do not have evidence of a value that’s there that’s low, and we’re replacing that part of the mechanism. So, if you look at treatment, from a treatment standpoint, it’s all supported, because this process can affect almost any cell in the body and anything that requires a lot of energy like a muscle, and if you kind of think about where muscles are, it could be in the eye, it could be the skeletal muscles, it could be the heart, it could be the muscles that are propulsing food through your GI tract, all of those things can be affected by these and these diseases present differently. Sometimes, it could be patients who are having GI problems, other times it could be patients who are having neurologic problems. So it’s a whole bunch of different ways in which they can present.

Brad Means: So clinical trials would give you a much better feel for this thing right?

Dr. Joseph Hobbs: It certainly would.

Brad Means: And if you just treat it, we don’t know if an approach that would help somebody who just, say, has a pulmonary disease, has a breathing problem, would help somebody with mitochondrial disease. We don’t know if that approach would work for both people, right?

Dr. Joseph Hobbs: Right.

Brad Means: Well, let me ask you this, Dr. Griner, what about repairing a cell? And I know, I don’t wanna put you on the spot, about mitochondrial disease, because so much is unknown, but are there ailments that people have where you can go in and fix cells and the person gets better?

Dr. Richard Griner: Well, I guess it truly depends on the nature of disease. Most mitochondrial diseases are genetic in nature, so there is a defect, a mutation in a gene that’s gonna lead to a mutation, and thus a defective protein. So what you really need to do to cure the cell is to replace the defective gene, so that you can make a normal functioning protein. The problem is, our technology for that is not advanced enough to do that effectively, accurately, yet. So far, gene therapy is really still in its infancy, and the likelihood of doing more harm with introducing a gene, is just as great or greater than actually doing some good for the patient. So, we’re still quite a few ways away from those types of therapy being effective and being commonplace.

Brad Means: I know that we can’t control our genes or certain outcomes that are genetically related, but are there any lifestyle practices that we can implement that can lead to healthier cells?

Dr. Richard Griner: Well, certainly for these diseases there are instances where extreme diet changes can have a big impact you see, mitochondria–

Brad Means: A good impact or a bad impact?

Dr. Richard Griner: A good impact. Mitochondria are involved in the final stages of breaking apart the energy-rich molecules in our food, and taking that energy and transferring it in to make ATP. So, they’re handling the breakdown products from carbohydrates, from proteins, and from fats. Some of these diseases are known to affect the specific enzymes and proteins that manage, just, say for example, the fat portion of breakdown. And so some patients benefit from diets where they eliminate almost all fat.

Brad Means: What sort of advice would you give to patients who come through with mitochondrial disease, and know you haven’t had any, because there’s not that many out there. Patti was kind enough to help us, as I mentioned, put a face on it. She’s tired a lot, so would you say, okay, get more rest, or do this exercise to have more energy. Do you address symptom by symptom to try to make the person feel better overall?

Dr. Joseph Hobbs: Well, in preparation for this, I actually looked at the recommendations of the Mitochondrial Medical Society that’s out there, and their recommendations are all supportive. So you attack the various symptoms, so if it’s pulmonary, you address the pulmonary issue, for the fatigue, it’s muscle strengthening, to the extent that you can do that, because that has been shown to increase at least the quality of life. Things as simple as handgrips might actually get a little bit better under those circumstances. But, looking at the individual symptom itself, or the organ that might be impacted, directing your attention to those sorts of situations, because it’s all supportive, at this point in time.

Brad Means: One of the key things we pointed out today, and Patti certainly did a great job of it, is the need for more attention, the need for more research that can possibly lead to more affordable medications. In your time as a physician, Dr. Hobbs, have you seen that when lawmakers get busy, when they try to push for more money, more clinical trials, more research, that it does lead to better outcomes for patients? That it’s not just some sort of dream, that it really does help them in their day-to-day lives?

Dr. Joseph Hobbs: Well, I think a lot of what drives areas of research is first of all the identification that the problem exists. And then, someone has to begin to invest in individuals who are willing to support the scientific community to begin to investigate the area. Something like this, you’re looking at the number of people that we’re talking about that’s involved, that have been impacted by this particular process, at any one time, that number is small. And when you look at some of the impact on the cost of research and things of this nature, this actually might drop down the sense of priority, just because of its size. But a lot of the time, the decisions are not made by how many people are impacted, it’s how much you can get that voice out there with regards to getting people interested in the disease. Especially if it appears that if we engage in more scientific research, we may be able to find ways to address this. Because typically, what might happen is that for a disease like this, as you do the research, you’re learning a lot about a whole bunch of other diseases, not just this one.

Brad Means: I was, yeah.

Dr. Joseph Hobbs: You’re beginning to understand how this organelle works, and it has impact systemically throughout the functioning of the body. So what you from from, in this particular situation has implications on other disease processes as well.

Brad Means: Yeah, that was gonna be my final point, Dr. Griner, we can address this issue and resolve it hopefully one day, God willing, the benefits could be far-reaching, correct?

Dr. Richard Griner: True, true. Mitochondria have been implicated, been defective and working improperly in lots of diseases, everything from Alzheimer’s to ALS, Parkinson’s, lots of neurological diseases, obviously lots of muscular diseases.

Brad Means: Listen, we tried to cover a ton of ground in a short time, and I appreciate you all educating me and our viewers, walking us through all of it. Dr. Richard Griner, Dr. Joseph Hobbs, thank you for being here today, we appreciate you.

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