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Researchers at UCD

Paula Byrne

Senior Lecturer

School of Medicine

Tel: +353 1 716 6737
Email: paula.byrne@ucd.ie

Biography

My main laboratory based research is in Hereditary Spastic Paraplegia (HSP), a group of rare inherited neurodegenerative disorders. In collaboration with St Vincent¿s University Hospital we have been performing genotype phenotype correlations and identifying and characterising novel causative loci. We have been studying the molecular mechanisms involved in this form of neurodegeneration. I am also interested in optimising methods of educating medical professionals on rare genetic disorders.

 

Member of UCD Academic Centre for Rare Diseases

Professional

             

Employment

Employer: Institute of Cancer Research/Royal Marsden Hospital
Position: Post Doctoral Research Fellow
Employer: University College Dublin
Position: Special Lecturer
Employer: University College Dublin
Position: College Lecturer
Employer: University College Dublin
Position: Senior Lecturer

Education

Year 1989 Institution: Trinity College Dublin
Qualification: BA Subject:
Year 1992 Institution:
Qualification: PhD Subject:
         

Publications

     

Peer Reviewed Journals

Byrne, PC,Webb, S,McSweeney, F,Burke, T,Hutchinson, M,Parfrey, NA; (1998) 'Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance'. Gene, 6 :275-282. [Details]
Byrne, PC,McMonagle, P,Webb, S,Fitzgerald, B,Parfrey, NA,Hutchinson, M; (2000) 'Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p'. Urology, 54 :1510-1517. [Details]
Murphy, S,Gorman, G,Beetz, C,Byrne, P,Dytko, M,McMonagle, P,Kinsella, K,Farrell, M,Hutchinson, M; (2009) 'Dementia in SPG4 hereditary spastic paraplegia Clinical, genetic, and neuropathologic evidence'. Neurology, 73 :378-384. [DOI] Link to full text [Details]
Milewska, M.,McRedmond, J.,Byrne, P. C.; (2009) 'Identification of novel spartin-interactors shows spartin is a multifunctional protein'. J Neurochem, 111 (44):1022-301022. Available Online [Details]
Milewska M, Byrne PC (2015) 'Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells'. Cell Biology International, 39 (9):1007-1015. [DOI] [Details]
Waldron, B,Benson, C,O'Connell, A,Byrne, P,Dooley, B,Burke, T; (2010) 'Health locus of control and attributions of cause and blame in adjustment to spinal cord injury'. Spinal Cord, 48 :598-602. [DOI] [Details]
Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M (2009) 'Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence'. Urology, 73 (5):378-384. [DOI] [Details]
Beetz, C,Schule, R,Deconinck, T,Tran-Viet, KN,Zhu, H,Kremer, BPH,Frints, SGM,van Zelst-Stams, WAG,Byrne, P,Otto, S,Nygren, AOH,Baets, J,Smets, K,Ceulemans, B,Dan, B,Nagan, N,Kassubek, J,Klimpe, S,Klopstock, T,Stolze, H,Smeets, HJM,Schrander-Stumpel, CTRM,Hutchinson, M,van de Warrenburg, BP,Braastad, C,Deufel, T,Pericak-Vance, M,Schols, L,de Jonghe, P,Zuchner, S; (2008) 'REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31'. Brain, 131 :1078-1086. [DOI] [Details]
Stevanin G, Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, ; (2008) 'Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome'. American Journal of Human Genetics, 82 (4):992-1002. [DOI] [Details]
Deufel T, Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, ; (2007) 'Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause'. Human Mutation, 28 (7):739-740. [DOI] [Details]
Lu, J,Rashid, F,Byrne, PC; (2006) 'The hereditary spastic paraplegia protein spartin localises to mitochondria'. Neurochemistry, 98 :1908-1919. [DOI] [Details]
Mannan, AU; Boehm, J; Sauter, SM; Rauber, A; Byrne, PC; Neesen, J; Engel, W; ; (2006) 'Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with reticulon 1 an endoplasmic reticulum protein'. Neurogenetics, 7 (2):93-103. [Details]
McMonagle, P; Byrne, P; Hutchinson, M; ; (2004) 'Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia'. Neurology, 62 (3):407-410. [Details]
Murphy, A; Stephens, J; McMonagle, P; Hutchinson, M; Parfrey, N; Byrne, P; ; (2002) 'Sequence analysis of SPAST in Irish families with autosomal dominant hereditary spastic paraparesis'. Pathology, 198 (NA):43-43. [Details]
P McMonagle, P Byrne, T Burke, N Parfrey & M Hutchinson; (2001) 'Clinical and pathological findings in hereditary spastic paraparesis with spastin mutation'. Neurology, 56 :139. [Details]
Hughes, CA; Byrne, PC; Webb, S; McMonagle, P; Patterson, V; Hutchinson, M; Parfrey, NA; ; (2001) 'SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q'. Neurology, 56 (9):1230-1233. [Details]
Byrne, P.C., Mc Monagle, P., Webb, S., Fitzgerald, B., Parfrey, N.A., and Hutchinso, M.; (2000) 'Age related cognitive decline in Hereditary Spastic Paraparesis linked to chromosome 2p'. Neurology, 54 :1510-1517. [Details]
Fonknechten, N., Mavel, D., Byrne, P.C., Davoine, C., Cruaud, C., Boentsch, D., Samson, D., Coutinho, P., Hutchinson, M., McMonagle, P., Burgunder, J., Heinzlef, O., Feki, I., Deufel, T., Parfrey, N., Brice, A., Fontaine, B., Prudhomme, J., Weissenbach, J., Durr, A., and Hazan, J.; (2000) 'Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia'. Human Molecular Genetics, 9 :637-644. [Details]
McMonagle, P; Byrne, PC; Fitzgerald, B; Webb, S; Parfrey, NA; Hutchinson, M; ; (2000) 'Phenotype of AD-HSP due to mutations in the SPAST gene - Comparison with AD-HSP without mutations'. Neurology, 55 (12):1794-1800. [Details]
Snell K, Baumann U, Byrne PC, Chave KJ, Renwick SB, Sanders PG, Whitehouse SK ; (2000) 'The genetic organization and protein crystallographic structure of human serine hydroxymethyltransferase'. Advances in Enzyme Regulation, 40 :353-403. [Details]
McMonagle P, Edgeworth J, Byrne P, Parfrey N, Hutchinson M, Burke T.; (2000) 'Evidence for preclinical cognitive deficits in hereditary spastic paraparesis (Meeting Abstract)'. ANN NEUROL, 48 (3):436-437. Available Online [Details]
McMonagle, P., Edgeworth, J., Byrne, P., Hutchinson, M., & Burke, T.; (2000) 'Detailing cognitive impairment of spastin gene carriers in pure autosomal dominant HSP. Proceedings of the Association of British Neurologists, Devon, University of Exeter, 5-7th April. (Abstract)'. J Neurol Neurosur Ps, 69 (3):420-421. Available Online [Details]
Johnson, Z, Molloy, B, Scallan, E, Fitzpatrick, P, Rooney, B, Keegan, T, Byrne, P, ; (2000) 'Community Mothers Programme - seven year follow-up of a randomized controlled trial of non-professional intervention in parenting'. Public Health, 22 (3):337-342. [Details]
Fitzgerald, B; Byrne, P; Hutchinson, M; Parfrey, NA; ; (1999) 'Evidence for gene localisation to CHR. 15 in 2 Irish families with Hereditary Spastic Paraplegia'. Laboratory Investigation, 79 (1):171-171. [Details]
Hughes, C; Byrne, PC; Hutchinson, M; Parfrey, NA; ; (1999) 'Mapping the gene for autosomal recessive hereditary spastic paraparesis with maculopathy (Kjellin Syndrome) to chromosome 14q'. Pathology, 189 (NA):3-3. [Details]
Webb S, Coleman D, Byrne P, Parfrey N, Hutchinson J, Hutchinson M; (1998) 'Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p'. Brain, 121 :601-609. [Details]
Parfrey, NA; Webb, S; Hutchinson, M; Byrne, PC; ; (1998) 'Gene localisation and haplotype analysis of complicated hereditary spastic paraparesis'. Modern Pathology, 11 (1):164-164. [Details]
Fitzgerald, B; Byrne, P; Hutchinson, M; Parfrey, NA; ; (1998) 'Very early onset Hereditary Spastic Paraplegia is not linked to the known major loci'. European Journal of Human Genetics, 6 (NA):161-161. [Details]
Byrne, P.C., Webb, S., McSweeney, F., Burke, T., Hutchinson, M. & Parfrey, N.A.; (1998) 'Linkage of AD HSP and cognitive impairment to chromosome 2p: Haplotype and phenotype analysis indicates variable expression and low or delayed penetrance'. European Journal of Human Genetics, 6 (3):275-282. Available Online [Details]
Webb, S., Byrne, P., Coleman, D., Harbourne, G., Parfrey, N., Burke, T., Hutchinson, J., & Hutchinson, M.; (1997) 'Hereditary spastic paraplegia with late onset dementia: Linkage to chromosome 2 (SPG4 Locus) Proceedings of the Association of British Neurologists. (Abstract)'. Journal of Neurology, Neurosurgery and Psychiatry, 63 :262-272. [Details]
PC. Byrne, JM. Shipley, KJ. Chave, PG. Sanders and K Snell; (1996) 'Characterisation of a human serine hydroxymethyltransferase pseudogene and it's localisation to 1p32.3-33'. Human Genetics, 97 :340. [Details]
Harbourne, G; Byrne, PC; Webb, S; Hutchinson, M; Parfrey, NA; ; (1996) 'A fourth gene in autosomal dominant hereditary spastic paraplegia'. Laboratory Investigation, 74 (1):849-849. [Details]
 

Conference Publications

Milewska, M and Byrne, P; (2010) Analysis of spartin, a protein mutated in HSP Irish Society of Human Genetics Annual meeting [Details]
Dytko M, Byrne P (2010) Further insights into the function of the Troyer syndrome protein, spartin Neuroscience Ireland, 3rd Annual Conference, TCD, Dublin [Details]
Dytko M, Byrne P (2010) Analysis of the function of spartin, a protein mutated in hereditary spastic paraplegia 12th Annual Scientific Meeting of the Irish Society of Human Genetics, DCU, Dublin [Details]
Dytko M, Linehan R, Sewell L, Stubbs A, Wynne K, McRedmond J, Byrne P (2008) An investigation into the function of the hereditary spastic paraplegia protein, spartin. Exploration of spartin interacting proteins International Neuroimmunology Symposium, UCD, Dublin [Details]
Lu JP, Rashid F & Byrne PC; (2005) Localisation of spastin and spartin to cellular organelles 45th Meeting of the American Society of Cell Biology San Francisco, USA, , 10-DEC-05 - 14-DEC-05 [Details]
                       

Abstract

Dytko, M,Byrne, P (2010) FURTHER INSIGHTS INTO THE FUNCTION OF THE TROYER SYNDROME PROTEIN, SPARTIN. Abstract [Details]
Dytko, M,Linchan, R,Sewell, L,Stubbs, A,Wynne, K,McRedmond, J,Byrne, P (2008) An investigation into the function of the hereditary spastic paraplegia protein, spartin. Exploration of spartin interacting proteins. Abstract [Details]
Hanein, S,Martin, E,Boukhris, A,Byrne, P,Goizet, C,Hamri, A,Benomar, A,Lossos, A,Denora, P,Hutchinson, M,Santorelli, FM,Mhiri, C,Brice, A,Stevanin, G (2008) Identification of the SPG15 (Spastizin) gene, responsible for an autosomal recessive complicated spastic paraplegia. Abstract [Details]
Murphy, A,Stephens, J,McMonagle, P,Hutchinson, M,Parfrey, N,Byrne, P (2002) Sequence analysis of SPAST in Irish families with autosomal dominant hereditary spastic paraparesis. Abstract [Details]
Fitzgerald, B,Byrne, P,Hutchinson, M,Parfrey, NA (1999) Evidence for gene localisation to CHR. 15 in 2 Irish families with Hereditary Spastic Paraplegia. Abstract [Details]
Fitzgerald, B,Byrne, P,Hutchinson, M,Parfrey, NA (1998) Very early onset Hereditary Spastic Paraplegia is not linked to the known major loci. Abstract [Details]
                                                               

Research

Research Interests

Genetic analysis of hereditary spastic paraplegia

The focus of my research is to explore the genetic and molecular mechanisms leading to hereditary spastic paraplegia (HSP). HSP encompasses a diverse group of neurodegenerative disorders characterised by progressive spasticity and weakness of the lower limbs that can also be accompanied by additional neurological and/or non neurological symptoms. We are localising and identifying genes that cause this disorder in the Irish population. We are also investigating the physiological role and function of newly identified HSP causing genes with the aim of elucidating the pathogenic mechanisms leading to the axonal degeneration that occurs in HSP. Significant findings to date include; mapping a novel gene (SPG15) that causes a complicated form of HSP in Irish families, functional analysis of spartin, a protein which, when mutated, causes hereditary spastic paraplegia associated with mental retardation and short stature, extensive genotype/phenotype correlations and extensive mutation screening in Irish HSP families.

 

FUNDING AGENCIES:

Science Foundation Ireland

Research Projects

Sponsor : University College Dublin (UCD)
Title : An investigation into the molecular basis of the protective effect of estrogen on colon cancer development
Start Date / End Date : 01-OCT-03 / 30-SEP-04
Sponsor : Health Research Board (HRB)
Title : Functional Analysis of spastin, a novel protein implicated in the degenerative spinal cord disorder hereditary spastic paraplegia
Start Date / End Date : 01-OCT-01 / 31-DEC-09
Sponsor : Science Foundation Ireland (SFI)
Title : An investigation into the function of the hereditary spastic paraplegia protein, spartin
Start Date / End Date : 01-SEP-06 / 31-AUG-09
   

Collaborators

Internal Collaborators

Team:
Ms Malgorzata Dytko - Post graduate student

External Collaborators

Prof Michael Hutchinson, St Vincents University Hospital
Dr Giovanni Stevanin, Hopital de Salpetriere, Paris