Scientists have discovered a new form of congenital muscular dystrophy caused by mutations in a previously un-linked gene.
They hope the finding will lead to a precise genetic diagnosis for a greater number of children affected by the condition and better management of their care.
The breakthrough, which is published in the American Journal of Human Genetics, follows research by Dr Yalda Jamshidi from St George’s, University of London, UK, and Dr Chiara Manzini from George Washington University, USA.
They undertook a DNA examination of five individuals who were affected by early onset of a group of conditions including muscle weakness and an inability to stand or walk. Other symptoms included cataracts, intellectual disability and short stature.
Although some of the individuals’ symptoms varied, mutations in the same disease gene – INPP5K – were identified that had not previously been reported.
As part of the study, the research team blocked the expression of the gene in zebrafish, which led to them having muscle damage and eye defects, similar to the features seen in the individuals with the mutations.
“These findings can be used for diagnostic testing of people with symptoms similar to those described in this study and where the gene responsible for their condition is not known,” said Dr Jamshidi.
“If INPP5K is found to be the faulty gene, patients will get better guidance and more accurate information on their condition.”
He said there is no treatment yet available to address the underlying genetic cause of CMD and it is hoped that further research will identify why a faulty INPP5K gene causes these symptoms.
Robert Meadowcroft, chief executive of Muscular Dystrophy UK, commented: “Early stage research identifying genes for muscle-wasting conditions, such as this, gives us valuable insight into better understanding these complex and rare conditions.
"The results from this paper could help some families living with congenital muscular dystrophy to receive a faster diagnosis, paving the way for a potential treatment for this mutation in the future.”
Jamshidi Y, Manzini C, Osborn DPS et al. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. American Journal of Human Genetics 9 September 2017; doi:10.1016/j.ajhg.2017.01.019 [abstract]
Leave a Reply