Professor Jane Hewitt at Nottingham University has recently finished a project that aimed to increase understanding of the molecular causes of facioscapulohumeral muscular dystrophy. The successful project led to the publication of three papers in peer-reviewed journals.
A PhD studentship grant awarded to Professor Jane Hewitt at Nottingham University finished recently. With her student, Andreas Leidenroth, Prof Hewitt aimed to increase understanding of the molecular causes of facioscapulohumeral muscular dystrophy. The successful project led to the publication of three papers in peer-reviewed journals.
The project focused on different aspects of the role DUX4 plays in FSH. DUX4 is a protein that is not usually produced in adult muscle. However, in the muscles of people with FSH, DUX4 is produced and can turn other genes on or off. In this project the researchers identified links between DUX4 and other genes that are known to be turned on in FSH.
The researchers also investigated whether the DUX4 gene is found in other animals. They found that an exact copy of the gene is not present in some of the animals typically used in the laboratory whilst similar genes are. This information will be crucial for resaerchers developing animal models of the condition.
The group also investigated the genetic causes of FSH. Following the publication of a mutation that can cause FSH type 2 by a research group in the Netherlands, Prof Hewitt’s group screened blood samples from people with FSH in the UK for the mutation. They confirmed that the mutation found by the group in the Netherlands could cause FSH and importantly, were able to correct the the diagnosis of some individuals from FSH type 2 to Limb girdle muscular dystrophy.