DNA Archives

¿Ser o no ser SCA27B? Esa es la cuestión: Misteriosos casos de ataxia resueltos gracias a los avances en tecnología genética

April 26, 2024

Escrito por Dr. Hayley McLoughlin y Dr. Sharan SrinivasanEditado por Dr. Celeste SuartTraducido por Ismael Araujo-Aliaga Una nueva tecnología de secuenciación genética reveló numerosos casos de ataxia familiar asociados a una mutación de un antiguo culpable de la ataxia hereditaria A pesar de los mejorados accesos al diagnóstico genético, la Read More…

Spinocerebellar Ataxia Type 8: Lifetime risk and repeat interruptions

August 18, 2023

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…

To be or SCA27B? That is the Question: Mystery ataxia cases solved by advances in genetic technology

March 24, 2023

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…

Snapshot: What are somatic expansions?

March 10, 2023

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…

Interaction of Ataxin-1 and DNA repair proteins contributes to SCA1 disease onset and progression

September 17, 2021

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…

Snapshot: What is a Gene?

December 4, 2020

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…

Snapshot: What is poly-ADP-ribose (PAR)?

June 19, 2020

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…

La huntingtine: un nouvel acteur dans l’arsenal de la réparation de l’ADN

March 11, 2020

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…

Snapshot: How does CAG tract length affect ataxia symptom onset?

January 10, 2020

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…

Huntingtin: a new player in the DNA repair arsenal

November 22, 2019

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…

What is Ataxia?

Español

Info by Ataxia Type

Newly Diagnosed?

Educational Resources

Find Healthcare

Treatment Development

Support Groups

Connect

NAF Resources

Other Resources

Healthcare Provider Resources

NAF Ataxia Research

NAF Funded Research by Year

Participate in Research

Learn About Research

Research Support

Drug Development Resources

Research Collaboration

Other Resources

Support NAF

Fundraise

Ways to Connect

Follow NAF on Social Media

Advocacy