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Assessing the Most Affected Muscles in a Neuromuscular Disease Mouse Model

Principal Investigator: Dr. Maurice Swanson
UF College of Medicine
Department of Molecular Genetics & Microbiology

January 2023 - Present

My research is centered around Myotonic Dystrophy (DM). DM is the most common form of adult-onset muscular dystrophy. Patients affected by this neuromuscular disease typically present with muscle weakness and wasting. In DM research, there is a lack of understanding as to which muscles in a genetically engineered mouse model are representative of the disease pathology. I am investigating these various mouse muscles to analyze which are the most affected by the disease mechanisms, and further, characterize a representative mouse muscle to focus study on for future investigations in Myotonic Dystrophy.

My responsibilities within this project include obtaining and analyzing RNA and protein expression of relevant DM genes such as Dmpk and Cnbp. Additionally, I am responsible for mouse husbandry, muscle dissection, and isolation, as well as histology, immunoflouresence, and microscopy. 

I will also continue to develop skills in data analysis and interperting results.

Type I Mytonic Dystrophy (DM1) mechanism of pathogenicity.

Type II Mytonic Dystrophy (DM2) mechanism of pathogenicity.

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Tissues and body systems affected by Myotonic Dystrophy.

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Hindlimb mouse muscles investigated in research study.

References:

Mytidou et al. 2021. Frontiers in Physiology. DOI: 10.1016/j.bbadis.2014.05.019

Sznajder ŁJ, Swanson MS. Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy. Int J Mol Sci. 2019 Jul 9;20(13):3365. doi: 10.3390/ijms20133365. PMID: 31323950; PMCID: PMC6651174.

Wenninger et al. 2018. Front. Neurol. doi: 10.3389/fneur.2018.00303

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