The "somatic-spread" hypothesis for sporadic neurodegenerative diseases

Medical Hypotheses

Volumn 77, Issue 4, 2011, Pages 544-547

  Pamphlett, Roger ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HEAVY METAL;

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL DIVISION; CENTRAL NERVOUS SYSTEM; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENVIRONMENTAL FACTOR; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HUMAN; HYPOTHESIS; MOTONEURON; MOTOR NEURON DISEASE; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PROTEIN CONFORMATION; PROTEIN EXPRESSION; SOMATIC MUTATION; SOMATIC PROGENITOR CELL; SOMATIC SPREAD HYPOTHESIS; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS; STEM CELL;

CELL LINEAGE; HUMANS; MODELS, THEORETICAL; MOTOR NEURONS; MUTATION; NEURODEGENERATIVE DISEASES; PROTEIN FOLDING;

EID: 80052620148     PISSN: 03069877     EISSN: 15322777     Source Type: Journal    
DOI: 10.1016/j.mehy.2011.06.027     Document Type: Article

References (37)

1. Kiernan M.C., Vucic S., Cheah B.C., et al. Amyotrophic lateral sclerosis. Lancet 2011, 377:942-955.
2. Byrne S., Walsh C., Lynch C., et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2011, 82:623-627.
3. Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002, 3:748-758.
4. Soriano P., Jaenisch R. Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages. Cell 1986, 46:19-29.
5. Pang A.W., MacDonald J.R., Pinto D., et al. Towards a comprehensive structural variation map of an individual human genome. Genome Biol 2010, 11:R52.
6. Pamphlett R. Somatic mutation: a cause of sporadic neurodegenerative diseases?. Med Hypotheses 2004, 62:679-682.
7. Frank S.A. Evolution in Health and Medicine Sackler Colloquium: somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc Natl Acad Sci USA 2010, 107(Suppl. 1):1725-1730.
8. Saunderson R., Yu B., Trent R.J., Pamphlett R. A polymorphism in the poliovirus receptor gene differs in motor neuron disease. Neuroreport 2004, 15:383-386.
9. Pamphlett R., Waley P. Motor neuron uptake of low dose inorganic mercury. J Neurol Sci 1996, 135:63-67.
10. Morahan J.M., Yu B., Trent R.J., Pamphlett R. Genetic susceptibility to environmental toxicants in ALS. Am J Med Genet B Neuropsychiatr Genet 2007, 144:885-890.
11. Caroscio J.T., Mulvihill M.N., Sterling R., Abrams B. Amyotrophic lateral sclerosis. Its natural history. Neurol Clin 1987, 5:1-8.
12. Brooks B.R. The role of axonal transport in neurodegenerative disease spread: a meta-analysis of experimental and clinical poliomyelitis compares with amyotrophic lateral sclerosis. Can J Neurol Sci 1991, 18:435-438.
13. Turner M.R., Brockington A., Scaber J., et al. Pattern of spread and prognosis in lower limb-onset ALS. Amyotroph Lateral Scler 2010, 11:369-373.
14. Korner S., Kollewe K., Fahlbusch M., et al. Onset and spreading patterns of upper and lower motor neuron symptoms in amyotrophic lateral sclerosis. Muscle Nerve 2011, 43:636-642.
15. Ravits J., Paul P., Jorg C. Focality of upper and lower motor neuron degeneration at the clinical onset of ALS. Neurology 2007, 68:1571-1575.
16. Ravits J., Laurie P., Fan Y., Moore D.H. Implications of ALS focality: rostral-caudal distribution of lower motor neuron loss postmortem. Neurology 2007, 68:1576-1582.
17. Jonsson P.A., Ernhill K., Andersen P.M., et al. Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis. Brain 2004, 127:73-88.
18. Kato S., Hayashi H., Nakashima K., et al. Pathological characterization of astrocytic hyaline inclusions in familial amyotrophic lateral sclerosis. Am J Pathol 1997, 151:611-620.
19. Tan C.F., Eguchi H., Tagawa A., et al. TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 2007, 113:535-542.
20. Mackenzie I.R., Bigio E.H., Ince P.G., et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007, 61:427-434.
21. Kobayashi Z., Tsuchiya K., Arai T., et al. Occurrence of basophilic inclusions and FUS-immunoreactive neuronal and glial inclusions in a case of familial amyotrophic lateral sclerosis. J Neurol Sci 2010, 293:6-11.
22. Hasegawa M., Arai T., Nonaka T., et al. Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 2008, 64:60-70.
23. Bosco D.A., Morfini G., Karabacak N.M., et al. Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci 2010, 13:1396-1403.
24. Dangond F., Hwang D., Camelo S., et al. Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter. Physiol Genom 2004, 16:229-239.
25. Ross C.A., Poirier M.A. Opinion: what is the role of protein aggregation in neurodegeneration?. Nat Rev Mol Cell Biol 2005, 6:891-898.
26. Chia R., Tattum M.H., Jones S., Collinge J., Fisher E.M., Jackson G.S. Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis. PLoS One 2010, 5:e10627.
27. Munch C., O'Brien J., Bertolotti A. Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells. Proc Natl Acad Sci USA 2011, 108:3548-3553.
28. Fuentealba R.A., Udan M., Bell S., et al. Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43. J Biol Chem 2010, 285:26304-26314.
29. Liu-Yesucevitz L., Bilgutay A., Zhang Y.J., et al. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells, pathological brain tissue. PLoS One 2010, 5:e13250.
30. Udan M., Baloh R.H. Implications of the prion-related Q/N domains in TDP-43 and FUS. Prion 2011, 5:1-5.
31. Pamphlett R., Heath P.R., Holden H., Ince P.G., Shaw P.J. Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. J Neurosci Meth 2005, 147:65-67.
32. Luquin N., Yu B., Trent R.J., Pamphlett R. DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010, 11:76-82.
33. Gottlieb B., Beitel L.K., Alvarado C., Trifiro M.A. Selection and mutation in the " new" genetics: an emerging hypothesis. Hum Genet 2010, 127:491-501.
34. Braak H., Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991, 82:239-259.
35. Clavaguera F., Bolmont T., Crowther R.A., et al. Transmission and spreading of tauopathy in transgenic mouse brain. Nat Cell Biol 2009, 11:909-913.
36. Braak H., Rub U., Gai W.P., Del Tredici K. Idiopathic Parkinson's disease: possible routes by which vulnerable neuronal types may be subject to neuroinvasion by an unknown pathogen. J Neural Transm 2003, 110:517-536.
37. Hansen C., Angot E., Bergstrom A.L., et al. Alpha-Synuclein propagates from mouse brain to grafted dopaminergic neurons and seeds aggregation in cultured human cells. J Clin Invest 2011, 121:715-725.