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Discovery

Preclinical

Clinical

DM1 (CUG)

ALS/FTD (G4C2)

Tauopathies

Undisclosed targets

Imbalance of 4R/3R Tau Ratio can drive neurodegeneration

  • Mutations in the gene (MAPT) that encodes for Tau protein can increase toxic 4R tau levels and cause a form of dementia (FTDP-17).

  • An imbalance in 4R tau also contributes to other more common diseases including Alzheimer’s Disease.

  • SMIRNA targeting MAPT pre-mRNA reduce 4R Tau by altering the splicing pattern and restoring the correct balance between 3R and 4R Tau.

Diseases linked to Tau:

Dementias and Movement Disorders

Tau pre-mRNA splicing

Star

Patho-mechanisms for ALS C9orf72 and FTD

  • An expansion repeat of r(G4C2) in the first intron of the C9orf72 mRNA forms a stable structure that is aberrantly recognized by the RNA translation machinery.

  • This results in repeat-associated non-ATG translation, where RNA is translated into protein even when the correct signal for translation (i.e. an ATG start site) is not there. 

  • This translation makes toxic polypeptides that can damage neurons by affecting nuclear trafficking and other cell functions.

Amyotrophic Lateral Sclerosis (ALS)

and Frontotemporal Dementia (FTD)

r(G4C2)exp C9orf72 pre-mRNA

r(CUG)exp DMPK mRNA

DM1 is Caused by a r(CUG) Repeat Expansion in the DMPK gene

  • DM1 is the most common type of adult-onset muscular dystrophy.

  • A r(CUG) repeat expansion in the DMPK mRNA attracts and sequesters a pre-mRNA splicing regulating protein called Muscleblind.

  • Sequestered Muscleblind is unable to function correctly, and cannot regulate proper pre-mRNA splicing, leading to abnormal protein production in many organs and tissues. 

Myotonic Dystrophy Type 1

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Your life has been impacted by one of the debilitating neurological diseases and you already know plenty by experience and by your own search for answers.  Or your condition is a recent onset of disease and you don't know where to begin.  We believe it's our job to join you in your quest by participating with our shared community.  Listening in on the critical conversations taking place is as important as the research we are conducting.  Together we can be relevant and effective on this journey.

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