Fernando Ricksen on living with Motor Neurone Disease
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Researchers have discovered a new gene known as TMEM63C which causes degenerative disease affecting the upper motor neuron cells in the body’s nervous system.
Published in the journal Brain, the latest discovery is important as the gene is located in the region of the cell where the lipid processing pathways operate.
The research boosts the theory MND is caused by the abnormal processing of lipids such as cholesterol.
Speaking about the research, Professor Andrew Crosby of Exeter University said: “We’re extremely excited by this new gene finding, as it is consistent with our hypothesis that the correct maintenance of specific lipid processing pathways is crucial for the way brain cells function, and that abnormalities in these pathways are a common linking theme in motor neurone degenerative diseases.”
Although MND is thought to be one disease, in fact there are multiple forms of the condition.
As the disease progresses more motor neurons become damaged and die, as each one dies, the patient’s movement becomes more limited.
What makes this research important is that it identifies for the first time a definitive cause.
Researchers now say changes inside the gene TMEM63C are the cause of the disease.
Now researchers have identified the cause, work can continue at pace on a potential cure for the condition.
Despite scientists knowing about the disease as early as 1869, there are almost no effective treatments for the disease.
Symptoms of the condition to look out for include:
• Weakness in the ankle or leg
• Slurred speech
• Weak grip
• Muscle cramps and twitches
• Weight loss
• Difficulty stopping yourself from crying or laughing.
As well as providing key information for researchers into how MND may be tackled, the study reveals the importance of lipids in the blood such as cholesterol.
Lipids like cholesterol are needed for overall health.
Cholesterol can be split into two types, HDL and LDL.
HDL, or high-density lipoprotein, is required by the body for cardiovascular health; it is also known as ‘good’ cholesterol.
LDL, or low-density lipoprotein, is known as ‘bad’ cholesterol as it forms as a plaque in the arteries.
This form of cholesterol is responsible for rises in blood pressure and risk of a heart attack.
Should lifestyle measures fail to lower cholesterol, patients may be prescribed statins instead.
These work by reducing the production of cholesterol in the liver.
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