Discovery of Molecule That May Treat Rare Mitochondrial Diseases (2025)

1. Recently, Scientists have found a molecule (a small chemical compound) that could help treat POLG-related diseases.
   1. These are rare genetic diseases that harm the mitochondria (the “powerhouses” of our cells) and make it hard for cells to get enough energy.
2. This molecule appears to reverse the damage caused by mutations (changes in DNA) that affect the POLG gene (a gene responsible for a key protein in mitochondria).

What Are POLG-Related Diseases?

1. POLG-related diseases are rare and caused by problems with the POLG gene.
2. The diseases lead to mitochondrial DNA being damaged and not being able to repair itself properly.
3. This affects the body’s ability to create and use energy.
4. The diseases are very variable (different people have different symptoms, and it can affect people at different ages).
   1. Alpers-Huttenlocher syndrome (a severe form) starts between ages 2-4 and can lead to liver failure, seizures, and death within 4 years.
   2. Other forms of POLG diseases may show symptoms between 12 and 40 years old, but symptoms are less severe for people who develop them later in life.

What is Mitochondrial DNA ?  Mitochondrial DNA (mtDNA) is the circular, double-stranded DNA found within the mitochondria, the cell's energy-producing organelles. Mitochondria have their own DNA, which is separate from the DNA found in the nucleus of the cell. This mitochondrial DNA is passed down only through the mother, which is why it’s sometimes called the "maternal inheritance." The health of mitochondrial DNA is crucial for the proper functioning of mitochondria. If there are mutations (changes) in the mitochondrial DNA, it can lead to diseases that affect energy production in the body.

How Does This New Molecule Work?

1. The researchers wanted to find a molecule that could enhance the activity of the POLG protein (the protein made by the POLG gene).
2. They screened 270,000 compounds to find one that could help the healthy POLG protein and even mutant versions of it.
3. They found one promising molecule, called PZL-A, and made it more powerful by tweaking it.
4. PZL-A helps stabilize the POLG protein, so it can repair DNA and work properly, even with mutations.
5. This helps cells to recover from damage.

What Makes This Molecule Special?

1. PZL-A works by binding to a specific part of the POLG protein that is not affected by the most common disease-causing mutations (the mutations that cause these diseases).
2. The molecule stabilizes the POLG protein, allowing it to continue its work in repairing and replicating mitochondrial DNA.
3. In experiments, cells with POLG mutations treated with PZL-A were able to recover their mitochondrial DNA much faster than untreated cells.

What’s Next for This Discovery?

1. The team has started testing a molecule similar to PZL-A in humans.
2. They’re currently testing its safety in healthy people.
3. If PZL-A works well and has no harmful side effects, it could become a treatment for people with POLG diseases, which currently have no cure—only treatments for symptoms.
4. The researchers are also looking into whether this molecule could help with other diseases, like those related to aging or neurodegenerative conditions (diseases like Alzheimer's that involve the breakdown of the brain).

Why Is This Important?

1. This is the first drug aimed specifically at treating POLG mutations and improving mitochondrial function.
2. If successful, this could change the lives of people with these devastating diseases.
3. The research could also help in understanding aging diseases, since mitochondrial DNA depletion is linked to many age-related illnesses.

What Are Mitochondria?   Mitochondria are tiny, bean-shaped structures found inside most of your cells. They have their own DNA (genetic material) and are the only parts of your body (other than your nucleus) that contain DNA. Mitochondria are surrounded by 2 membranes: one smooth outer membrane and a folded inner membrane that increases surface area for energy production. What Do Mitochondria Do? Produce Energy (ATP): Mitochondria generate ATP (adenosine triphosphate), the molecule that powers nearly all the activities in your cells. They do this by using nutrients from the food you eat (like sugars and fats) and turning them into usable energy. Control Cell Growth & Death: Mitochondria play a role in cell division and growth. They can also trigger cell death (apoptosis), which is important for getting rid of damaged cells. Regulate Metabolism: They help control how the body processes food, converts it into energy, and regulates things like body temperature and metabolism. Why Are Mitochondria Important? Every cell in your body (except red blood cells) has mitochondria. Muscle cells and nerve cells have a lot of mitochondria because they need a lot of energy to function. Since they make energy for the entire body, problems with mitochondria can lead to serious diseases, often affecting organs that need the most energy, like the heart, muscles, and brain.

 

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