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…
RNA interference, or RNAi, is a natural biological process that inhibits the expression of a specific gene. In medicine, targeted RNAi therapies can be used to silence the expression of a disease-causing gene. To understand RNAi, you first have to understand RNA. An overview of RNA is the messager between Read More…
Written by Dr. Judit M. Perez Ortiz Edited by Dr. Sriram Jayabal In a new study, scientists have found that “zapping” the brain with an electromagnetic wand may someday help patients with spinocerebellar ataxia. In an era of ever-evolving technological advances used for personal entertainment and space travel, medical scientists Read More…
Written by Jorge Diogo Da Silva Edited by Dr. David Bushart Normalizing neuronal dysfunction in SCA3/MJD by activating a receptor inside cells Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an inherited neurodegenerative disease that typically begins in mid-adulthood. This disease causes loss of coordination and Read More…
Written by Dr. Lauren R. Moore Edited by Larissa Nitschke Creatine, a common dietary supplement taken by athletes, delays symptoms and improves balance and strength in SCA3 mice. Could a common nutritional supplement used by athletes to boost performance also provide benefits to ataxia patients? This was the main question Read More…
Written by Terry Suk Edited by Dr. Hayley McLoughlin In this classic article, researchers describe how CAG repeat number variation can inform differences in the way SCA3/MJD symptoms present. Machado-Joseph Disease (MJD) was first described in the 1970’s in four families of Azorean descent. However, it was not initially clear Read More…
Written by Jorge Diogo Da Silva Edited by Dr. Maria do Carmo Costa Potential drug targets and biomarkers of SCA3/MJD revealed Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a debilitating neurodegenerative disease that usually begins in mid-life. The mutation that causes SCA3 leads to the Read More…
Written by Larissa Nitschke Edited by Dr. Gülin Öz Researchers in the Netherlands uncover a new way to treat SCA3 Upon receiving a conclusive diagnosis of Spinocerebellar Ataxia (SCA), hundreds of questions can appear in a patient’s mind: What is Spinocerebellar Ataxia? Why am I affected? How will my symptoms Read More…
Written by Dr. Laura Bowie Edited by Dr. Hayley McLoughlin Researchers use genetics to find new pathways that impact the onset of polyglutamine disease symptoms The cells of the human body are complex little machines, specifically evolved to fulfill certain roles. Brain cells, or neurons, act differently from skin cells, which, in Read More…
Written by Dr. Terri M Driessen Edited by Dr. W.M.C. van Roon-Mom Antisense oligonucleotides: a potential treatment for SCA3 that partially rescues SCA3 disease mouse models Identifying new ways to slow down or delay neurodegenerative diseases has been a key research focus in the SCA field. There are many avenues that scientists Read More…
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