In a nutshell: somatic expansions are expansions of repeat DNA sequences that accumulate in cells over an individual’s lifetime. A special kind of mutation: repeat expansion mutations Some genes naturally contain repeat sequences in the DNA. For the most part, these DNA repeats are relatively short and do not cause Read More…
Written by Brenda Toscano Marquez Edited by Marija Cvetanovic Insoluble clumps of mutated ataxin-1 capture essential proteins and trigger the creation of toxic reactive oxygen species. All proteins produced by our cells consist of long chains of amino acids that are coiled and bent into a particular 3D structure. Changes Read More…
Principal Investigator: Dr. Ray Truant Location: McMaster University, Hamilton, Ontario, Canada Year Founded: 1999 What disease areas do you research? SCA1 SCA7 Huntington’s Disease Parkinson’s Disease What models and techniques do you use? Human cell biology High content screening Biophotonics Microscopy Research Focus What is your research about? We are Read More…
Written by Dr. Michael Flower Edited by Dr. Rachel Harding Editor’s Note: This article was initially published by HDBuzz on March 13, 2020. They have graciously allowed us to build on their work and add a section on how this research may be relevant to ataxia. This additional writing was Read More…
Ataxias can occur due to a multitude of reasons. One way a patient might acquire ataxia is from an accident or an injury – not as a result of genetics. On the other hand, a patient could also inherit a specific mutation (a genetic defect, in other words) from one Read More…
Written by Frida Niss Edited by Dr. Hayley McLoughlin One drug to treat them all: an approach using RNA interference to selectively lower the amount of mutant protein in all polyglutamine diseases. Work by a group in Poland shows initial success in Huntington’s Disease, DRPLA, SCA3/MJD, and SCA7 patient cells. Read More…
Écrit par Dr. Ambika Tewari, Edité par Dr. Mónica Bañez-Coronel, Traduction française par: L’Association Alatax, Publication initiale: 22 novembre 2019 Des mutations dans la protéine huntingtine altèrent la réparation de l’ADN, causant des dommages importants à l’ADN et une expression génétique modifiée. Notre génome regroupe l’intégralité de notre matériel génétique, qui Read More…
The instructions our bodies need to grow and function are contained in our genes. These instructions are made up of tiny structures called nucleobases. There are four types of nucleobases in DNA: adenine (A), cytosine (C), guanine (G), thymine (T). By putting these four nucleobases in different orders and patterns, Read More…
Written by Dr. Ambika Tewari Edited by Dr. Mónica Bañez-Coronel Mutations in the Huntingtin protein impair DNA repair causing significant DNA damage and altered gene expression Our genome houses the entirety of our genetic material which contains the instructions for making the proteins that are essential for all processes in Read More…
The information that allows the normal development and functioning of each human being is coded in DNA, which exists in all cells of the body. Several successive segments of DNA make up a gene, with the human body containing approximately 20,000. Every gene has a different arrangement of DNA segments Read More…
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