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Dr Michael A SimpsonMy research interest centres upon the identification of the inherited components of human disease and the subsequent study of resulting molecular disruption of cellular mechanisms. My interest in this area has lead to my involvement in the genetic mapping, gene identification and downstream functional analysis of disease genes in a broad spectrum of human phenotypes. These studies include the mapping and gene identification in an autosomal recessive form of motor neuron disease. We identified the causative mutation in the maspardin gene, whose protein product localises to the Golgi and plays a role in intracellular transport and trafficking processes. The mapping and identification of the causative gene in an infantile epilepsy syndrome, the identification of the causative mutation in the GM3 synthase gene was the first to be described in the ganglioside biosynthesis pathway and demonstrates how this family of glycosphingolipids is crucial for neuronal stability. More recently, I have been involved in the identification of the causative mutations in a novel gene in the pathogenesis of a disorder of increased bone density and I am currently also involved in a number of studies aimed at elucidating the molecular genetic basis of cardiomyopathy in humans and other mammals.
Publications
Zahka K, Kalidas K, Simpson MA, Cross H, Keller B, Galambos C, Gurtz K, Patton MA, Crosby AH (2008) Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency amongst the Amish. Heart [Epub ahead of print] Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH (2008) A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology [Epub ahead of print] Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH (2007) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. American Journal of Human Genetics 82(2):510-515 PubMed Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Americal Journal of Human Genetics 2007 Nov 81:906-912. PubMed Hashemzadeh CM, Simpson MA, Farrokhi E, Dolati M, Hoghooghi RL, Amani GS, Crosby AH (2007) Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clinical Genetics 2007 Sept 72:261-263. PubMed Robay D, Patel H, Simpson MA, Brown NA, Crosby AH. Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Experimental Cell Research 2006 Sep 10;312(15):2764-77. PubMed Brockmann K, Simpson MA, Faber A, Bonnemann C, Crosby AH, Gartner J. Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. Neuropediatrics 2005 Aug;36(4):274-8. PubMed Norman M, Simpson MA, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005 Aug 2;112(5):636-42. PubMed Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005 May;6(2):79-84. PubMed Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. Journal of Medical Genetics 2005 Jan;42(1):80-2. PubMed Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DCA, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH. Infantile onset symptomatic epilepsy syndrome caused by a homozygous loss of function mutation in GM3 synthase. Nature Genetics 2004 Nov;36(11):1225-9. PubMed Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. American Journal of Human Genetics 2003 Nov;73(5):1147-56. PubMed Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Diagnostic strategies in CADASIL. Neurology 2002 Oct 22;59(8):1134-8. PubMed |
Dr Michael A Simpson
Postdoctoral Researcher
Section of Medical Genetics Tel: (+44)208 725 5361 |
