MedicalResearch.com Interview with:
Dr Chiara Manzini PhD
Assistant Professor of Pharmacology and Physiology, and Integrative Systems Biology
George Washington University
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: I have been working on finding genes that are mutated in rare forms of muscular dystrophy associated with brain and eye deficits for many years.
In the current study, which was a large collaborative effort, we found that mutations in the INPP5K gene cause a new type of muscular dystrophy with short stature, intellectual disability and cataracts. INPP5K is critical for processing a chemical called inositol phosphate which has multiple functions within the cell. We found that the mutations in the patients severely disrupt INPP5K function and when we removed the gene during zebrafish development, the fish showed the same findings observed in the patients: small size, disrupted muscle structure and eye deficits. We are very excited because this is a new disease gene for muscular dystrophy and a novel disease mechanisms, which can open up multiple new lines of investigation.
MedicalResearch.com: What should readers take away from your report?
Response: Identifying new genes and carefully describing clinical presentation is critical for doctors to be able to recognize rare diseases and recommend genetic testing for the families. By finding this new gene, we not only gave an answer to the families involved in the study, but provided information for new families to be diagnoses and tested. In rare disease research, patients can often go undiagnosed for years, especially when the disease has not been previously described in the literature.
In the future, we may also find new drug targets to develop treatments we had not thought about before. One cool aspect of this research was that we used a site called GeneMatcher, which is practically matchmaking for scientists, to identify additional patients for the study. With rare diseases it is often difficult to recruit enough cases to identify multiple mutations in the same gene, which one of the goal standards to confirm that a gene is truly involved in a specific disease. GeneMatcher allowed us to get in touch with other researchers around the world and speed up research and publication, which is incredibly important for the patients and their families.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: It is going to be very interesting to identify additional patients and really determine how different INPP5K mutations affect the muscle, skeleton, eye and brain. We really need to do a lot more research to learn how INPP5K leads to the different aspects of this disorder. Hopefully, this gene will help us better understand brain and muscle development to identify much needed new therapies.
In addition, I would definitely recommend that scientists reach out and use these matching sites, because working together will move the field forward much faster.
MedicalResearch.com: Is there anything else you would like to add?
Response: None of this research would have been possible without funding from both the March of Dimes Foundation and the Muscular Dystrophy Associations. These are great charities that support both research and families.
MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Osborn DP, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.
Am J Hum Genet. 2017 Feb 1. pii: S0002-9297(17)30019-8. doi: 10.1016/j.ajhg.2017.01.019. [Epub ahead of print]
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