Peripheral nerve myelin protein 22: Difference between revisions
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'''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic [[peripheral neuropathy|peripheral neuropathies]] | '''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic [[peripheral neuropathy|peripheral neuropathies]].<ref name=Keller1999>{{citation | ||
| journal = Brain Pathol | | journal = Brain Pathol | ||
| date = 1999 Apr | | date = 1999 Apr | ||
| Line 7: | Line 7: | ||
| author = Keller MP, Chance PF | | author = Keller MP, Chance PF | ||
| url = http://www.ncbi.nlm.nih.gov/pubmed/10219749?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_SingleItemSupl.Pubmed_Discovery_RA&linkpos=4&log$=relatedreviews&logdbfrom=pubmed | | url = http://www.ncbi.nlm.nih.gov/pubmed/10219749?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_SingleItemSupl.Pubmed_Discovery_RA&linkpos=4&log$=relatedreviews&logdbfrom=pubmed | ||
}}</ref> | }}</ref> These include the several subclasses of [[Charcot-Marie-Tooth disease]] (CMT), with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C), as well as [[hereditary neuropathy with sensitivity to pressure palsies]] (HNPP), an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy. | ||
CMT1A and HNPP are reciprocal duplication/deletion syndromes<ref>{{citation | |||
| journal = Genome Res | |||
| date=2001 Jun | |||
| url = http://www.ncbi.nlm.nih.gov/pubmed/11381029?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=22 | |||
| volume = 11 | pages = 1018-33. | |||
| title = The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. | |||
| author = Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B}}</ref> originating from unequal crossover during germ cell meiosis.<ref name=Keller1999 /> HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. <ref>{{citation | |||
| Am J Hum Genet | |||
| date = 1995 Jan | |||
| volume = 56(1):91-8. | |||
| title = A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. | |||
| author = Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR | |||
| url = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801301/?tool=pubmed}}</ref> | |||
In [[hereditary motor and sensory neuropathy type 1a]] (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. <ref>{{citation | In [[hereditary motor and sensory neuropathy type 1a]] (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. <ref>{{citation | ||
| Line 19: | Line 33: | ||
| author = Gabriel CM, Gregson NA, Wood NW, Hughes RAC}}</ref> | | author = Gabriel CM, Gregson NA, Wood NW, Hughes RAC}}</ref> | ||
An inflammatory polyneuropathy may become superimposed on patients with CMT. <ref>{{citation | An inflammatory polyneuropathy may become superimposed on patients with CMT. This inflammation has been treated with [[corticosteroid]]s and [[intravenous immune globulin]] (IVIG).<ref>{{citation | ||
| journal = Brain | | journal = Brain | ||
| date = 2004 Jan (ePub 7 November 2003) | | date = 2004 Jan (ePub 7 November 2003) | ||
Revision as of 15:51, 31 January 2010
Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies.[1] These include the several subclasses of Charcot-Marie-Tooth disease (CMT), with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C), as well as hereditary neuropathy with sensitivity to pressure palsies (HNPP), an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy.
CMT1A and HNPP are reciprocal duplication/deletion syndromes[2] originating from unequal crossover during germ cell meiosis.[1] HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. [3]
In hereditary motor and sensory neuropathy type 1a (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. [4]
An inflammatory polyneuropathy may become superimposed on patients with CMT. This inflammation has been treated with corticosteroids and intravenous immune globulin (IVIG).[5]
References
- ↑ 1.0 1.1 Keller MP, Chance PF (1999 Apr), "Inherited neuropathies: from gene to disease.", Brain Pathol 9: 327-41
- ↑ Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001 Jun), "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.", Genome Res 11: 1018-33.
- ↑ Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR (1995 Jan), A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies., vol. 56(1):91-8.
- ↑ Gabriel CM, Gregson NA, Wood NW, Hughes RAC (2002), "Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a)", J Neurol Neurosurg Psychiatry 72: 230-235, DOI:10.1136/jnnp.72.2.230
- ↑ Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH (2004 Jan (ePub 7 November 2003)), "Coexistent hereditary and inflammatory neuropathy<r", Brain 127(Pt 1): 193-202