Shalom Life | April 21, 2014

Mice: Key to Understanding Neurological Disease?

Tel Aviv researchers learn about Vanishing White Matter from engineered mice.

By: Bev Spritzer

Published: July 18th, 2010 in News » Israel

Mice: Key to Understanding Neurological Disease?

Researchers at Tel Aviv University (TAU) have developed a strain of mice in order to help scientists learn more about various brain diseases.

The mice in question suffer from Vanishing White Matter (VWM), a neurological disorder that as of now, remains incurable.

VWM is most often diagnosed in young children, and caused by a mutation in one of the 5 genes that make up the elF2B enzyme. This enzyme plays an important role in properly functioning systems throughout the body, but mutations seem to affect white matter in the brain, for reasons that are still unclear.

The development of mice with VWM is a medical breakthrough, as these mice will allow scientists to perform invasive research that cannot be carried out on human beings.

Israeli researchers hope these mice will be the key to answering questions regarding early symptoms of the disease, what can trigger the disease, or cause its symptoms to become more severe. Research on the mice will also help scientists identify the molecular processes behind the disease, an important factor in finding a cure.

VWM can be recessively inherited, and while symptoms generally appear in young children who may have appeared to develop normally up until that point, it has been recently shown that VWM can begin at birth as well, or even in adulthood.

A defining feature of the disease is that the symptoms seem to progress slowly for the most part, but there can be episodes of rapid decline following a fever, infection or head trauma. The patient may have a partial recovery following these episodes, but they may also lead to coma, or death.

The disease is typically diagnosed on the basis of symptoms which can range from delayed psychomotor development in young children, to neurological deterioration, lethargy, abnormal muscle spasms, loss of muscle coordination, seizures, and optic atrophy.

In order to create mice with VWM, the scientists have altered the gene responsible for elF2B production, so that the mice have only 80% of the normal level of the enzyme. The TAU research team who successfully manipulated the genes was led by Professor Orna Elroy-Stein.

Israel National News reported that the mice with lower enzyme levels were then placed under MRI observation, allowing researchers to see which areas of the brain were affected and when.

What the scientists found was that the mice with low elF2B levels were not able to repair damage to white matter in the brain, while those with normal enzyme levels repaired brain damage over the course of several weeks.

Leukoencephalopathy is a variation of VWM, which also affects the brain and central nervous system, and thus can also benefit from the research. This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.

Research into disorders affecting white brain matter is thus expected to help scientists understand not just VWM, but other neurological disorders as well, including Multiple Sclerosis, among others.

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