There is a great unmet medical need for patients living with metabolic disorders. There are few approved treatments for these conditions and many are fatal.
These diseases include phenylketonuria, homocystinuria, tyrosinemia, and maple syrup urine disease, all of which are considered rare. While each of these diagnoses have slightly different symptoms, they are all caused by an enzyme deficiency. As a whole, metabolic disorders make up a large percentage of infant genetic diagnoses.
In order to help keep symptoms at bay, patients are prescribed a strict diet. Some also undergo bone marrow transplants. However even these are not entirely effective.
Thankfully, a new discovery by researchers at Tel Aviv University is hopefully going to pave the way for new therapeutic options for these patients.
The Discovery
Researchers at Tel Aviv believe that yeast can serve as an effective model for examining potential treatments for metabolic conditions.
“Yeast, the world’s most basic eukaryotic unicellular organism, may pave the way for the development of novel, more effective therapies.”
Yeast is a critical ingredient in bread and beer. But it turns out this organism actually mimics the pathology of some diseases. By using a yeast model, researchers hope they will be able to identify and better understand more of the molecular mechanisms which go on in metabolic conditions.
Yeast has previously been used in various research endeavors as it is easy to manipulate and it’s cheap. However, until now, yeast hasn’t been used to examine metabolic diseases.
How it Works
Metabolites are supposed to be modified by specific enzymes. In metabolic conditions, the gene which is supposed to produce one of these enzymes malfunctions, meaning the metabolite is never modified. This metabolite then accumulates at much higher levels than normal, and the body is forced to try to cope with the damage.
Researchers at Tel Aviv were able to manipulate yeast cells so that they produced a toxic amount of metabolites. Specifically, they used the metabolite called adenine. With this model, researchers will now be able to examine the pathways which lead to the accumulation of metabolites and adequately test potential treatments for them.
This finding was published on January 8th, 2019 in Nature Communications.
In Sum
Ultimately, understanding the pathways of these conditions is a key component of uncovering novel therapies to treat them. Researchers believe that using yeast as a model will allow them to examine these pathways more effectively. Hopefully, we will see this research result in new treatments for conditions such as homocystinuria and phenylketonuria soon!
You can read more about this research here.
