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Written by Dr. Hannah K ShorrockEdited by Dr. Larissa Nitschke Differences in the lifetime risk of developing SCA8 are associated with the presence of interruptions in the ATXN8 repeat expansion. In most spinocerebellar ataxias caused by repeat expansions, everyone who carries a repeat expansion above a certain threshold will develop Read More…
Written by Dr. Hayley McLoughlin and Dr. Sharan Srinivasan Edited by Dr. Celeste Suart A novel genetic sequencing technology uncovered numerous familial ataxia cases linked to a unique mutation in an old genetic ataxia culprit. Despite improved access to genetic testing, the ability to diagnose hereditary ataxias remains quite difficult. Read More…
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 Dr. By Marija Cvetanovic Edited by Dr. Larissa Nitschke Suart et al. show that Ataxin-1 interacts with an important DNA repair protein Ataxia telangiectasia mutated (ATM), and that reduction of ATM improves motor phenotype in the fruit fly model of SCA1, indicating DNA repair as an important modifier Read More…
A gene is the basic physical unitof heredity. Every living cell contains genetic information that determines an organism’s development, form, and function. This genetic information is encoded by two macromolecules: DNA and RNA. DNA consists of two strands of phosphate and sugar molecules connected by pairs of nitrogenous bases to Read More…
DNA repair is an important topic when talking about of neurodegenerative disorders. The amount of biochemical stress the brain experiences increases naturally as we age. Some connections have been made between the amount of stresses on the brain and the age people develop neurodegenerative disorders. Many of these natural stresses 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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