Genes provide all of the information that our bodies require to function normally.
Our ability to see, think and fight against infections are all controlled by our genes.
Sometimes, however, genes are altered (or mutated), leading to significant health problems.
For example, in people who have one type of congenital disorder of glycosylation (PMM2-CDG),
the PMM2 gene is mutated.
This causes a broad range of problems such as vision impairment, hearing loss, immune
deficiency, seizures, inability to walk, and inability to talk.
How is it that a change in a single gene causes such wide variety of problems, and what type
of treatment can address all of these issues?
Let’s take a closer look.
Genes provide the instructions for our bodies.
These instructions are carried out by proteins.
PMM2’s job is to make a type of sugar to be added to proteins.
Adding sugars to proteins allows them to do their jobs properly.
When the PMM2 is mutated, it can’t make enough sugar as needed by proteins in the
body, which causes proteins NOT to function properly.
Because sugars are responsible for making sure that many different types of proteins
function properly, people with PMM2-CDG experience a wide range of symptoms.
Currently, there is no cure for PMM2-CDG, and existing treatments, only address the
symptoms and not the underlying problem.
Excitingly, scientists at Glycomine are working on a new treatment option for people with
PMM2-CDG that addresses the cause of the disease.
People with PMM2-CDG can’t create enough of a type of sugar, called Mannose-1-phosphate.
Scientists are investigating whether they can bypass the job of PMM2 by directly providing
Mannose-1-phosphate to people with PMM2 deficiency.
One of the biggest obstacles for this type of therapy is making sure that the sugar is
able to enter the cells.
This is difficult because cells are surrounded by a layer of fat, which does not allow sugars
to enter.
One way around this problem is to disguise the Mannose-1-phosphate so it can enter the
cell.
Imagine a small object that is floating around in space, trying to enter a bubble.
Without any help, the object is unable to enter, and just bounces off the outside of
the bubble.
However, if the object is enclosed in a smaller bubble, then the outside of the big bubble
and the small bubble can come together, allowing the small object to enter the larger bubble.
Similarly, for Mannose-1-phosphate to be delivered into a cell, it has to be encased in a layer
of fat, because the outside of a cell is also encased in a layer of fat.
That’s exactly what the scientists at Glycomine did: they created a layer of fat, called a
liposome, that encases the sugar.
Having enough sugar around and ready to be attached to proteins may improve the ability
of the cell to create functional proteins.
Importantly, liposomes have been successfully used to deliver medications to treat other
types of diseases.
Before any medication becomes available, it must be thoroughly tested in laboratory animals,
such as mice, followed by carefully controlled clinical trials in humans.
To ensure that the medicine passes through the last step in the development process,
participation in the clinic trials is of utmost importance.
This innovative approach is very exciting because it addresses the underlying cause
of PMM2-CDG.
This treatment may significantly improve many of the wide-ranging symptoms associated with
PMM2-CDG.
This video has been produced by Youreka Science in collaboration with the Amour Fund.
To support the Amour Fund and CDG research, please make a contribution by clicking the
link below.