PSC Frontier Seminar series
Title:Planting ideas for medicine: from thermal responses to human genetic diseases
Speaker:Prof. Sureshkumar Balasubramanian
Day/Date:Mar 15th, 2019 (Friday)
Host:Prof. Yuehui HE
Venue:No.1 meeting room
Plants are highly sensitive to growth environment and even a change of 1ºC have major impacts on their growth and development. My lab has been interested in elucidating molecular mechanisms that mediate environmental responses in plants. In our pursuit of temperature responses, we discovered the first and only known triplet repeat expansion outside humans that is associated with a growth defect . Triplet repeat expansions underlie several human genetic diseases such as Friedreich's ataxia, Huntington's disease and Fragile X syndrome. Among these diseases Friedreich's ataxia is caused by an intronic repeat expansion that some results in transcriptional down regulation. Although the underlying mutation in Friedreich's ataxia was known from 90's it was unclear how these repeat expansions result in transcriptional down regulation of the loci harbouring the expansion. Using the plant model, we have shown that triplet expansions lead to epigenetic silencing of the locus through a mechanism involving smallRNAs. I will present our findings and also discuss some preliminary follow up work that has relevance for the treatment/management of Friedreich's ataxia.
The seminar will be delivered in English.