The team of the SCA3 research group

SCA3 research group

Our research group is working on the Spinocerebellar ataxia type 3 (SCA3), which is also known as Machado-Joseph disease (MJD). SCA3 is an autosomal-dominantly inherited, neurodegenerative disease with late manifestation. In brains of SCA3 patients, the formation of typical intranuclear inclusion bodies and the degeneration of neurons in specific brain regions can be observed (Figure).

The disease is caused by the expansion of a CAG repeat in the MJD1 gene, resulting in an expanded glutamine stretch in the encoded Ataxin-3 protein.

Therefore, SCA3 belongs to the group of polyglutamine diseases which are all caused by the same type of mutation. Some other members of this group are Huntington’s disease as well as several other types of Spinocerebellar ataxias. SCA3 is the most common form of Spinocerebellar ataxias in Germany.

SCA3 patient

 

control

 

Figure: Histological pontine section of an SCA3 patient and a control in which Ataxin-3 was made visible. In the SCA3 patient, the intranuclear inclusion body can easily been seen (arrowhead). (Figure adapted from Schmidt et al., 1998)