Fanconi Anemia Inspires Development of a Test to Identify Aldehyde in Blood

Fanconi anemia, a rare and serious blood disorder that is known to result in bone marrow failure, is estimated to affect about 1 child in every 130,000 births; in fact, according to St. Jude’s Children’s Hospital about 31 babies are born with the inherited disorder annually.

Aldehydes inside cells provoke DNA mutations that cause the disorder, but the inability to measure these molecules accurately in the blood has hindered any advancement towards finding a cure.

Perhaps until now.

A team of Stanford researchers are channeling their efforts into developing a test that could potentially inform the development of a treatment capable of halting the damage induced by aldehydes. Currently, there are no effective drugs available to treat the disorder’s root cause.

“If we had a drug and we were doing clinical testing, we would love to be able to say, ‘Here’s your aldehyde level before you started the drug, and here are the aldehyde levels in your blood cells after you started the drug,” Kenneth Weinberg, MD, professor of pediatric hematology and oncology and Anne T. and Robert M. Bass professor in pediatric cancer and blood diseases at Stanford, said in a recent statement.

Aldehydes are known to occur naturally, and sometimes they are capable of tangling DNA, which results in hindering the production of essential proteins from replicating as they should. This tangling could potentially kill stem cells in patients with Fanconi anemia, which are responsible for creating blood cells; those with the disorder do not possess the genes needed to untangle and fix the DNA. Similar DNA damage is often seen in several cancers.

In order to eliminate these molecules, the researchers set out to develop a chemical capable of detecting the molecules. Although referred to as Darkzone, when aldehydes are present, the chemical was designed to emit a bright glow. Researchers are working on improving initial results yielded by work conducted in 2016 and taking the method to the clinic to be used in individuals with the disorder.

Specifically, the researchers have 2 central focuses:

1. To improve the chemical’s light output, which will make it easier to see how much of the molecule is present in a blood sample
2. To develop blood-drawing equipment capable of preventing the molecule from escaping or evaporating from the samples. To do this, they are working on making adjustments to a device that is already in existence and works by pulling blood through the skin rather than from a vein through the use of several hundred tiny needles. They would pre-load the vacuum-sealed device and then feed the sample into it to read.

The end goal for the researchers is to find a way to develop effective drugs to treat a condition in patients who are often unable to live past their twenties.

Aldehydes can be found everywhere; for example, acetaldehyde are often prevalent in plywood, paint, and even electronics.

“Aldehydes are industrial toxins, so it would be fantastic if we had the ability to measure people’s exposure and use that to drive efforts to mitigate their exposure to these chemicals,” Dr Weinberg concluded.