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ContactMyotonic Dystrophy - Prof D. Monckton
Group/Researcher: Prof D. Monckton, University of Glasgow
Myotonic dystrophy (DM) is the commonest form of inherited muscular dystrophy in adults with an incidence of 1 in 8000 in the UK. The symptoms are highly variable and can affect people of both sexes and all ages.
It is caused by a mutation called a “triplet repeat expansion” which describes the repetition of a segment of DNA. In this case it is a ‘CTG’ repeat in the DNA of the myotonic dystrophy type 1 gene (DM1). Individuals in the general population have less than 35 repeats, while individuals with DM1 typically have more than 50 repeats. Generally, the more repeats a patient has, the more severe their symptoms and the earlier the age of onset of DM1. However, to date it has not proven possible to predict accurately when an individual will develop the symptoms. This is partly due to the unstable nature of the repeat expansion and the fact that the number of repeats will change over the lifetime of an individual. This means that if a blood sample is taken from an individual for diagnostic purposes, the age of the individual will influence the number of repeats found in the sample and this makes it difficult to predict the course of the disease.
This project, based in Glasgow and being led by Prof. Darren Monckton focuses on the relationship between the length of the expanded repeat section and the prognosis of DM1. Prof. Monckton hopes to analyse the blood DNA preserved on Guthrie cards taken from nearly all babies born in the UK since the late 1960s to test the length of the expanded repeats at birth against progression of the disease in that individual.
Importantly, the number of repeats found in blood cells do not always match the number of repeats found in other body tissues such as muscle so a second aim of the project will be to study the numbers of DNA repeats in different tissues. Prof. Monckton hopes to find a correlation between the number of repeats in the blood DNA at birth and the number of repeats found in later life in the blood and muscle DNA.
The data from this study should enable the group to to obtain greatly improved information about the likely severity of symptoms to patients, more reliable risk estimates to future generations and provide information for clinical trials of new therapies.
Value of Grant: Year 2 - £54,530
Myotonic dystrophy (DM) is the commonest form of inherited muscular dystrophy in adults with an incidence of 1 in 8000 in the UK. The symptoms are highly variable and can affect people of both sexes and all ages.
It is caused by a mutation called a “triplet repeat expansion” which describes the repetition of a segment of DNA. In this case it is a ‘CTG’ repeat in the DNA of the myotonic dystrophy type 1 gene (DM1). Individuals in the general population have less than 35 repeats, while individuals with DM1 typically have more than 50 repeats. Generally, the more repeats a patient has, the more severe their symptoms and the earlier the age of onset of DM1. However, to date it has not proven possible to predict accurately when an individual will develop the symptoms. This is partly due to the unstable nature of the repeat expansion and the fact that the number of repeats will change over the lifetime of an individual. This means that if a blood sample is taken from an individual for diagnostic purposes, the age of the individual will influence the number of repeats found in the sample and this makes it difficult to predict the course of the disease.
This project, based in Glasgow and being led by Prof. Darren Monckton focuses on the relationship between the length of the expanded repeat section and the prognosis of DM1. Prof. Monckton hopes to analyse the blood DNA preserved on Guthrie cards taken from nearly all babies born in the UK since the late 1960s to test the length of the expanded repeats at birth against progression of the disease in that individual.
Importantly, the number of repeats found in blood cells do not always match the number of repeats found in other body tissues such as muscle so a second aim of the project will be to study the numbers of DNA repeats in different tissues. Prof. Monckton hopes to find a correlation between the number of repeats in the blood DNA at birth and the number of repeats found in later life in the blood and muscle DNA.
The data from this study should enable the group to to obtain greatly improved information about the likely severity of symptoms to patients, more reliable risk estimates to future generations and provide information for clinical trials of new therapies.
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