Uncovering the missing genetic causes of MND

As a supporter of the MND Association, you’ll know how important research is in the fight against MND. Your commitment is shared by researchers like Dr Johnathan Cooper-Knock, who has spent the last 10 years looking into the genetic causes of MND.

His work is fueled by the simple desire to help the people he sees in the clinic whose lives have been turned upside down by MND.

“I have always been struck by the personal side of MND,” he says. “Patients don’t falter and give up – they remain positive in the face of it all. How can I do any different?”

Dr Johnathan Cooper-Knock

With your support, researcher Dr Johnathan Cooper-Knock, who is based in Sheffield, has uncovered a new gene mutation associated with MND.

And thanks to the support of people like you, it’s an exciting time. “I’ve never seen such progress in the time I have been involved in MND research,” he reveals.

Dr Cooper-Knock believes that genetics is the route to finding a cure for MND. He recently discovered a new genetic cause of MND from working with a local family who displayed none of the known mutations already associated with MND.

The mutation that Dr Cooper-Knock discovered causes the activation of the GLT8D1 enzyme to be reduced in people with MND. This finding could be crucial in helping to design an effective treatment for all people living with MND.

“If we can boost the activity of that enzyme it could help people who carry the mutation,” says Dr Cooper-Knock,

“and others with MND too – because it suggests something about loss of activity in that enzyme is toxic to motor neurones.”

The discovery of rare genetic changes can be so valuable. It’s thanks to the support of people like you that we can continue to make these discoveries, creating the map that will tell us how the disease works and how to treat it.

“I have never seen such progress in the time I have been involved in MND research.” Dr Johnathan Cooper-Knock

Dr Allen: building on a decade of pioneering MND exploration

Another MND researcher who’s committed much of their career to helping find an MND cure is Dr Scott Allen.

“I’ve met so many patients,” he says, “and they’re so engaged in the research. Being able to make a difference in those people’s lives is what motivates me.”

Dr Allen’s determination is striking. When standard lab equipment proved to be incapable of delivering the detail his MND research required, he

commissioned new equipment. As a result, he discovered more pieces of the MND puzzle, and he simply couldn’t have done this without your support.

One of Dr Allen’s key discoveries is how the reduction of an enzyme called adenosine deaminase in the brain cells of people with MND has a dramatic effect on their energy levels. Adenosine deaminase converts a molecule called adenosine to inosine, which may be protective in MND.

“We found that if you gave inosine to patient cells in a dish, it was really good for them,” Dr Allen reveals. “It increased their ability to make energy.”

“The question for us to answer now,” he says, “is whether correcting the levels of adenosine deaminase in these cells will offer a treatment for MND.”

The great hope is that further research shows it can.

Dr Scott Allen

Read outs of energy production in MND brain cells

Dr Allen’s latest research is generating exciting leads to follow as potential MND treatments.

With your continued support, we’ll keep funding researchers who are dedicated to finding a cure.

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