Comparison of Huntington’s disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus

Article type: Short Communication

Authors: Geraerts, Fiona C.A.^a | Snell, Russell G.^a | Faull, Richard L.M.^b | Williams, Liam^a | Jacobsen, Jessie C.^{a; *} | Reid, Suzanne J.^a

Affiliations: [a] School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand | [b] Department of Anatomy and Medical Imaging, Centre for Brain Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand

Correspondence: [*] Correspondence to: Jessie Jacobsen, School of Biological Sciences, The University of Auckland, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand. Tel.: +64 9 3737599; E-mail: [email protected].

Abstract: Huntington’s disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele. Region-specific differences were not observed, suggesting symptomatology may not be determined by repeat length instability.

Keywords: Huntington’s disease, small-pool PCR

DOI: 10.3233/JHD-160203

Journal: Journal of Huntington's Disease, vol. 5, no. 3, pp. 297-301, 2016