Cause of an inherited neurological disorder discovered
Researchers at the University of Liverpool have identified the basis for how a single gene mutation can cause a rare neurological movement disorder known as dystonia.
Dystonia can result from an injury or can be an inherited disorder in which patients progressively develop from childhood uncontrollable muscle contractions leading to repetitive movements and awkward and painful postures. The disorder can affect one muscle, a muscle group, or the entire body.
It is estimated to affect at least 70,000 people in the UK. There are a large number of different types of dystonia which affect people in widely differing ways.
Symptoms of dystonia can range from very mild to severe. Dystonia can affect different body parts, and often the symptoms of dystonia progress through stages. Some early symptoms include: a ‘dragging leg’, cramping of the foot, involuntary pulling of the neck, uncontrollable blinking and speech difficulties. Usually there are no other neurological abnormalities.
There’s no cure for dystonia, but the condition can usually be effectively managed.
Researchers from the University’s Institutes of Translational Medicine (ITM) and Integrative Biology (IIB), led by Dr Nordine Helassa, have studied mutations in the gene encoding a protein known as hippocalcin previously identified as one cause of the disorder.
The effect of these mutations on the physiological role of hippocalcin or how this would impact on the nervous system had not been understood.
Hippocalcin is a member a family of proteins involved in signaling in the nervous system that have been extensively studied in Professor Bob Burgoyne’s group in ITM for the last 20 years.
As a result of their research, which has been published in the journal Human Molecular Genetics, the effect of the disease-causing mutations in hippocalcin on its physiological function have now been characterized.
These mutations do not affect the expression or the structure of the protein but lead to subtle defects in how it controls signaling in neurons.
In the course of the study it was found that hippocalcin can interact with specific types of calcium channels that are important for the normal initiation of neuronal activity and that expression of the disease-causing mutations resulted in overactivation of one particular class of these channels.
Dr Nordine Helassa said: “We can now understand for the first time how these mutations would have important physiological consequences that would lead to abnormalities in neuronal function. Excessive neuronal activation that could result in aberrant signaling in the brain of affected individuals.”
Source:
https://www.liverpool.ac.uk/research/news/articles/cause-of-an-inherited-neurological-disorder-discovered
Journal article:
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddx133
Infographic:
http://www.msunites.com/multiple-sclerosis-ms-symptoms-dystonia/
#dystonia #genemutation #hippocalcin #calciumchannels #neurologicaldisorders #neuroscience #medicine #health
Researchers at the University of Liverpool have identified the basis for how a single gene mutation can cause a rare neurological movement disorder known as dystonia.
Dystonia can result from an injury or can be an inherited disorder in which patients progressively develop from childhood uncontrollable muscle contractions leading to repetitive movements and awkward and painful postures. The disorder can affect one muscle, a muscle group, or the entire body.
It is estimated to affect at least 70,000 people in the UK. There are a large number of different types of dystonia which affect people in widely differing ways.
Symptoms of dystonia can range from very mild to severe. Dystonia can affect different body parts, and often the symptoms of dystonia progress through stages. Some early symptoms include: a ‘dragging leg’, cramping of the foot, involuntary pulling of the neck, uncontrollable blinking and speech difficulties. Usually there are no other neurological abnormalities.
There’s no cure for dystonia, but the condition can usually be effectively managed.
Researchers from the University’s Institutes of Translational Medicine (ITM) and Integrative Biology (IIB), led by Dr Nordine Helassa, have studied mutations in the gene encoding a protein known as hippocalcin previously identified as one cause of the disorder.
The effect of these mutations on the physiological role of hippocalcin or how this would impact on the nervous system had not been understood.
Hippocalcin is a member a family of proteins involved in signaling in the nervous system that have been extensively studied in Professor Bob Burgoyne’s group in ITM for the last 20 years.
As a result of their research, which has been published in the journal Human Molecular Genetics, the effect of the disease-causing mutations in hippocalcin on its physiological function have now been characterized.
These mutations do not affect the expression or the structure of the protein but lead to subtle defects in how it controls signaling in neurons.
In the course of the study it was found that hippocalcin can interact with specific types of calcium channels that are important for the normal initiation of neuronal activity and that expression of the disease-causing mutations resulted in overactivation of one particular class of these channels.
Dr Nordine Helassa said: “We can now understand for the first time how these mutations would have important physiological consequences that would lead to abnormalities in neuronal function. Excessive neuronal activation that could result in aberrant signaling in the brain of affected individuals.”
Source:
https://www.liverpool.ac.uk/research/news/articles/cause-of-an-inherited-neurological-disorder-discovered
Journal article:
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddx133
Infographic:
http://www.msunites.com/multiple-sclerosis-ms-symptoms-dystonia/
#dystonia #genemutation #hippocalcin #calciumchannels #neurologicaldisorders #neuroscience #medicine #health
I am Shelley from Los Angeles,California, I want to testify on how i got cured from cervical dystonia, I have suffered from cervical dystonia since the year 2011 with so mush pain,that i have to spend so mush money getting pain relief in the hospital, and I have visited several doctor ,but all to no avail, my world was gradually coming to an end because of the constant muscle contractions and pain , until i saw a post in a health forum about a herbal Dr Williams who use herbal portion in curing people from different kind of diseases including dystonia, at first i doubted if it we be able to cure me, but i decided to give it a try, when i contacted this herbal doctor via his email, he prepared a herbal portion and sent it to me via courier service, when i received this herbal medicine, he gave me step by step instructions on how to apply it, when i applied it as instructed, i was completely free from dystonia just for 1 months of usage,i we recommend this to all my friend family in the world today who still suffering from dystonia you can contact him through his email on drwilliams098675@gmail.com for help.
ReplyDeleteAs a sign of gratitude for how my son was saved from dystonia , i decided to reach out to those still suffering from this.
ReplyDeleteMy son suffered dystonia and it was really tough and heartbreaking for me because he was my all and the symptoms were terrible, we tried various therapies prescribed by our neurologist but none could cure him. I searched for a cure and i saw a testimony of so many people who was cured from dystonia and so many other with similar body problem, and they left the contact of this doctor who had the herbal cure to dystonia . I never imagined dystonia has a cure not until i contacted him and he assured me my son will be fine. I got the herbal medication he recommended and my son used it and in one months he was fully okay even up till this moment he is so full of life. dystonia has a cure and it is a herbal cure contact the doctor for more info on drwilliams098675@gmail.com on how to get the medication. Thanks for reading my testimony .