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Reduced muscle fiber merosin

MedGen UID:
868259
•Concept ID:
C4022651
•
Finding
Synonym: Reduced muscle fibre merosin
 
HPO: HP:0030092

Definition

A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced muscle fiber merosin

Recent clinical studies

Etiology

Effects of inhaled fluticasone propionate on extrinsic tongue muscles in rats.
Setzke C, Broytman O, Russell JA, Morel N, Sonsalla M, Lamming DW, Connor NP, Teodorescu M
J Appl Physiol (1985) 2020 Mar 1;128(3):576-585. Epub 2020 Jan 16 doi: 10.1152/japplphysiol.00359.2019. PMID: 31944881Free PMC Article
Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia.
Pregardien C, Pirotte T, Veyckemans F
Acta Anaesthesiol Belg 2016;67(3):139-141. PMID: 29873469
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH
PLoS One 2012;7(8):e43794. Epub 2012 Aug 27 doi: 10.1371/journal.pone.0043794. PMID: 22952766Free PMC Article
Frequency of M-cadherin-stained satellite cells declines in human muscles during aging.
Sajko S, Kubínová L, Cvetko E, Kreft M, Wernig A, Erzen I
J Histochem Cytochem 2004 Feb;52(2):179-85. doi: 10.1177/002215540405200205. PMID: 14729869
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.
Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H
Neuromuscul Disord 2000 Jan;10(1):16-23. doi: 10.1016/s0960-8966(99)00066-8. PMID: 10677859

Diagnosis

Alteration of cystic airway mesenchyme in congenital pulmonary airway malformation.
Jiang Y, Luo Y, Tang Y, Moats R, Warburton D, Zhou S, Lou J, Pryhuber GS, Shi W, Wang LL
Sci Rep 2019 Mar 28;9(1):5296. doi: 10.1038/s41598-019-41777-y. PMID: 30923323Free PMC Article
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.
Wilson K, Faelan C, Patterson-Kane JC, Rudmann DG, Moore SA, Frank D, Charleston J, Tinsley J, Young GD, Milici AJ
Toxicol Pathol 2017 Oct;45(7):961-976. Epub 2017 Oct 3 doi: 10.1177/0192623317734823. PMID: 28974147Free PMC Article
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159
Distribution of ten laminin chains in dystrophic and regenerating muscles.
Patton BL, Connoll AM, Martin PT, Cunningham JM, Mehta S, Pestronk A, Miner JH, Sanes JR
Neuromuscul Disord 1999 Oct;9(6-7):423-33. doi: 10.1016/s0960-8966(99)00033-4. PMID: 10545049
Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

Therapy

Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge.
Lu QL
J Neuromuscul Dis 2021;8(s2):S359-S367. doi: 10.3233/JND-210692. PMID: 34151854Free PMC Article
High-throughput screening identifies modulators of sarcospan that stabilize muscle cells and exhibit activity in the mouse model of Duchenne muscular dystrophy.
Shu C, Parfenova L, Mokhonova E, Collado JR, Damoiseaux R, Campagna J, John V, Crosbie RH
Skelet Muscle 2020 Sep 18;10(1):26. doi: 10.1186/s13395-020-00244-3. PMID: 32948250Free PMC Article
Strength training increases the size of the satellite cell pool in type I and II fibres of chronically painful trapezius muscle in females.
Mackey AL, Andersen LL, Frandsen U, Sjøgaard G
J Physiol 2011 Nov 15;589(Pt 22):5503-15. Epub 2011 Sep 26 doi: 10.1113/jphysiol.2011.217885. PMID: 21946848Free PMC Article
Effects of purified recombinant neural and muscle agrin on skeletal muscle fibers in vivo.
Bezakova G, Helm JP, Francolini M, Lømo T
J Cell Biol 2001 Jun 25;153(7):1441-52. doi: 10.1083/jcb.153.7.1441. PMID: 11425874Free PMC Article
Glomerular expression of dystroglycans is reduced in minimal change nephrosis but not in focal segmental glomerulosclerosis.
Regele HM, Fillipovic E, Langer B, Poczewki H, Kraxberger I, Bittner RE, Kerjaschki D
J Am Soc Nephrol 2000 Mar;11(3):403-412. doi: 10.1681/ASN.V113403. PMID: 10703664

Prognosis

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.
Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ
J Cell Biol 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207. PMID: 11257121Free PMC Article
Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis.
Ciftci AO, Cook RC, van Velzen D
J Pediatr Surg 1996 Dec;31(12):1706-11. doi: 10.1016/s0022-3468(96)90058-5. PMID: 8986997
Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

Clinical prediction guides

Inhibition of Rho kinase (ROCK) impairs cytoskeletal contractility in human Müller glial cells without effects on cell viability, migration, and extracellular matrix production.
Roda VMP, da Silva RA, Siqueira PV, Lustoza-Costa GJ, Moraes GM, Matsuda M, Hamassaki DE, Santos MF
Exp Eye Res 2024 Jan;238:109745. Epub 2023 Dec 1 doi: 10.1016/j.exer.2023.109745. PMID: 38043763
Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition.
Stoklund Dittlau K, Krasnow EN, Fumagalli L, Vandoorne T, Baatsen P, Kerstens A, Giacomazzi G, Pavie B, Rossaert E, Beckers J, Sampaolesi M, Van Damme P, Van Den Bosch L
Stem Cell Reports 2021 Sep 14;16(9):2213-2227. Epub 2021 Apr 22 doi: 10.1016/j.stemcr.2021.03.029. PMID: 33891869Free PMC Article
Extracellular matrix composition significantly influences pancreatic stellate cell gene expression pattern: role of transgelin in PSC function.
Apte MV, Yang L, Phillips PA, Xu Z, Kaplan W, Cowley M, Pirola RC, Wilson JS
Am J Physiol Gastrointest Liver Physiol 2013 Sep 15;305(6):G408-17. Epub 2013 Jul 18 doi: 10.1152/ajpgi.00016.2013. PMID: 23868411
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159
Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining.
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

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