Sue joined the College in January 2010 as Reader in Translational Medicine. The focus of Sue's work is to understand the pathogenesis of muscular dystrophy with a view to developing future treatments. She is specifically interested in the group of muscular dystrophies now referred to as the 'dystroglycanopathies'; which are forms of neuromuscular disease characterised by the altered glycosylation of alpha dystroglycan.
Sue studied Zoology with Botany at the University of Reading followed by a PhD in Muscle Development at the Royal Veterinary College. Since this time Sue has held appointments at the Royal Free Hospital, Guys’ Hospital Medical School, Royal Holloway College and Imperial College, London.
A MRC Career Development Grant whilst at Imperial enabled Sue to develop models for forms of muscular dystrophy linked to the altered glycosylation pattern of alpha dystroglycan (the dystroglycanopathies); work which she now continues at the Royal Veterinary College. Defects in the basement membranes of the eye, brain and muscle characterise the severe end of the clinical spectrum which is unusually wide in this group of disorders. Sue's main focus is in understanding how alterations in basement membrane formation lead to eye, brain and muscle involvement of some patients but not others who present solely with a muscular dystrophy. The ultimate goal of this work is to devise ways of intervening in the disease process.
Ross J, Benn A, Jonuschies J, Boldrin L, Muntoni F, Hewitt JE, Brown SC, Morgan JE. Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large(myd) Mouse. Stem Cells. 2012 Aug 9. doi: 10.1002/stem.1197. [Epub ahead of print]
Muntoni F, Torelli S, Wells DJ, Brown SC. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol. 2011 Oct;24(5):437-42.
Ackroyd MR, Whitmore C, Prior S, Kaluarachchi M, Nikolic M, Mayer U, Muntoni F, Brown SC. Fukutin-related protein alters the deposition of laminin in the eye and brain. J Neurosci. 2011 Sep 7;31(36):12927-35.
Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F.
Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS One. 2010 Dec 28;5(12):e14434.
M.R. Ackroyd, L. Skordis, M.Kaluarachchi, J.Godwin, Prior S., Fidanboylu M., R.J. Piercy, F. Muntoni, S.C. Brown. Reduced expression of fukutin related protein (FKRP) in mice results in a model for FKRP related muscular dystrophies. Brain Jan 2009 Feb;132(Pt 2):439-51.
Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F. A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity. Brain Pathol. 2008 19(4):596-611.
Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC. Acta Myol. 2007 Dec;26(3):129-35. Muscular dystrophies due to defective glycosylation of dystroglycan.