Annotated Bibliography

References

Conte G, Gioja L. 1836. Scrofola del sistema muscolare. Annali Clinici dell’Ospedale degli Incurabili di Napoli. 2:66-79.   

            Earliest known medical description possibly referring to DMD.

Pearce JS. 2005. Early Observations on Duchenne-Meryon Muscular Dystrophy. Eur Neurol. 54(1):46-48. DOI:10.1159/000087386

            Historic background on early DMD discoveries.

Emery AE and Emery ML. Edward Meryon (1809-1880) and muscular dystrophy. JMG. 30(6):506-511. DOI: 10.1136/jmg.30.6.506

            Further historic background on early DMD discoveries.

Duchenne GB. 1883. Selections from the Clinical Works of Dr. Duchenne (de Boulogne). New Sydenham Society.

            Select works from Dr Duchenne, for whom DMD is named, who was self supposedly the original discoverer of the condition.

Meryon E. 1852. On Granular and Fatty Degeneration of the Voluntary Muscles. Med Chir Trans. 35:73-84.1 URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2104198/

            Arguably the first study to characterize DMD, giving an in depth clinical analysis.

Walton JN and Nattrass FJ. 1954. On the classification, natural history and treatment of the myopathies. Brain. 77:196-231. URL: https://www.cabdirect.org/cabdirect/abstract/19551402668

            Identification of limb girdle muscular dystrophies (LGMD) distinct from classic Duchenne type.

Becker, P. E., Kiener, F. 1955. Eine neue X-chromosomale Muskeldystrophie. Arch. Psychiatr. Nervenkr. Z. Gesamte Neurol. Scand. 193: 427-448.   

            Landmark identification by Dr. Becker of Germany of a muscular dystrophy distinct from Duchenne type, exhibiting a milder phenotype (BMD).

Morton NE and Chung CS. 1959. Formal Genetics of Muscular Dystrophy. Am J Hum Genet. 11(4):360-379 URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1932041/

            Formal discovery of DMD gene on X chromosome using genetic probability analysis.

Jacobs et al. 1981 Duchenne muscular dystrophy (DMD) in a female with an X/autosomal translocation: Further evidence that the DMD locus is at Xp21. Am J Hum Genet. 33(4):513-518.

            Location of DMD gene at Xp21.

Lindenbaum RH et al. 1979. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet. 16(5):389-392.

            Progress in localization of DMD gene, mapping it to short arm of X chromosome.

Davies KE et al. 1983. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 11(8):2303-2312.

            Evidence for DMD gene location at Xp21 using linkage analysis.

Greenstein RM et al. 1977. An X/Autosome Translocation in a Girl with Duchenne Muscular Dystrophy (dmd): Evidence for Dmd Gene Localization. Ped Res. 11(4):457

            Separate evidence of DMD gene location using breakage points of translocation mutation in novel female case.

Verellen-Dumoulin et al. 1984. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet. 67(1):115-119. DOI: 10.1007/BF00270570

            Support of DMD gene location at Xp21 using Greenstein method.

Monaco A et al. 1986. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 323:646-650. DOI: 10.1038/323646a0

            Significant progress in cloning of the DMD gene.

Koenig M et al. 1987. Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50(3):509-517. DOI:10.1016/0092-8674(87)90504-6

            DMD gene fully mapped with complete cloning of the transcript.

Hoffman EP, Brown RH Jr. Kunkel LM. 1987. Dystrophin: the protein product of the duchenne muscular dystrophy locus. Cell. 51(6):919-28. DOI: 10.1016/0092-8674(87)90579-4

            Perhaps the biggest landmark in the DMD literature, this study identified the protein product of the DMD gene, dystrophin, for the first time. Not only did this identify the root problem in DMD, this also identified a protein which proved to have a critical muscle function.

Zubrzycka-Gaarn E et al. 1988. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature. 333(6172):466-469. DOI: 10.1038/333466a0

            Confirmation of dystrophin as being near the sarcolemma.

Campbell KP and Kahl SD. 1989. Association of dystrophin and an integral membrane glycoprotein. Nature. 338(6212):259-262. DOI: 10.1038/338259a0

            Original discovery of dystrophin associated proteins in the membrane.

Ervasti JM et al. 1990. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature. 345(6273):315-319. DOI: 10.1038/345315a0

            Link between loss of dystrophin and loss of DAPC elements in dystrophic muscle.

Ervasti JM and Campbell KP. 1991. Membrane organization of the dystrophin-glycoprotein complex. Cell. 66(6):1121-1131. DOI: 10.1016/0092-8674(91)90035-W

            Further characterization of the DAPC.

Ervasti JM and Campbell KP. 1993. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 122(4):809-823. URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2119587/

            Landmark paper establishing the role of the DAPC as transmembrane link for dystrophin.

Chan Y. 1998. Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture. J Cell Biol. 143(7):2033-2044.

            Study elucidating the structure of DAPC sub-unit, the sarcoglycan complex.

Monaco et al. 1988. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 2(1):90-95. DOI: 10.1016/0888-7543(88)90113-9

            Landmark paper establishing the framework rule, distinguishing DMD & BMD.

Nigro V and Savarese M. 2014. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 33(1):1-12.

            Catalog of different LGMDs and their dysregulated protein.

Duchenne. 1881. A treatise on the diseases of the nervous system.

            Source of historic drawings used in figure on theme page 1.

Yilmaz and Sechtem. 2012. Cardiac involvement in muscular dystrophy: advances in diagnosis and therapy. Heart. 98(5):420-429.

            Source of dystrophin diagram used in figure on theme page 1.

NIH. DMD Gene. https://ghr.nlm.nih.gov/gene/DMD#location

            Source of gene map used in figure on theme page 1.

Walton JN. 1955. On the inheritance of muscular dystrophy. Ann Hum Genet. 20(1):1-13. URL: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1469-1809.1955.tb01274.x

            Support for DMD as an X-linked recessive genetic disorder.

Tuffery-Giraud et al. 2009. Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase. Hum Mutat. 30(6):934-945. DOI: 10.1002/humu.20976

            Study of database breaking down trends in DMD mutation events.

Petrof BJ et al. 1993. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 90(8):3710-3714.

            Landmark study implicating sarcolemmal tearing in calcium dysregulation responsible for DMD pathology.

Ebashi S et al. 1959. High Creatine Phosphokinase Activity of Sera of Progressive Muscular Dystrophy. J Biochem. 46(1):103-104.

            Early observation of high levels of serum creatine kinase in DMD patients.

Cullen MJ et al. 1975. Stages in fibre breakdown in Duchenne muscular dystrophy. An electron-microscopic study. J Neurol Sci. 24(2):179-200. DOI: 10.1016/0022-510x(75)90232-4

            Histological overview of progression of DMD disease state.

Danialou G et al. 2001. Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. The FASEB Journal. DOI: 10.1096/fj.01-0030fje

            Study supporting mechanical stress/tearing in dysregulation of calcium.

Franco A and Lansman JB. 1990. Calcium entry through stretch-inactivated ion channels in mdx myotubes. Nature. 344(6267):670-673. DOI: 10.1038/344670a0

            Study supporting stretch activated channels in dysregulation of calcium.

Fong P et al. 1990. Increased Activity of Calcium Leak Channels in Myotubes of Duchenne Human and mdx Mouse Origin. Science. 250(4981):673-676. DOI: 10.1126/science.2173137

            Study supporting leak channel dysfunction in dysregulation of calcium.

Alderton JM and Steinhardt RA. 2000. Calcium Influx through Calcium Leak Channels Is Responsible for the Elevated Levels of Calcium-dependent Proteolysis in Dystrophic Myotubes. J Biol Chem. 275(13):9452-9460. DOI: 10.1074/jbc.275.13.9452

            Study supporting leak channel dysfunction in dysregulation of calcium.

Wrogemann K and Pena SDJ. 1976. Mitochondrial Calcium Overload: A General Mechanism for Cell-Necrosis in Muscle Diseases. The Lancet. 307(7961):672-674. DOI: 10.1016/S0140-6736(76)92781-1

            Study predating the discovery of dystrophin suggesting calcium’s role in DMD pathology

Spencer MJ et al. 1995. Calpains are activated in necrotic fibers from mdx dystrophic mice. J Biol Chem. 270(18):10909-10914. DOI: 10.1074/jbc.270.18.10909

            Demonstrates the importance calpain calcium receptors in DMD pathology.

Rando TA. 1998. Muscle cells from mdx mice have an increased susceptibility to oxidative stress. Neuromuscul Disord. 8(1):14-21. DOI: 10.1016/S0960-8966(97)00124-7

            Demonstrates the importance of ROS in DMD pathology.

Millay DP et al. 2008. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med. 14(4):442-447. DOI: 10.1038/nm1736

            Demonstrates the significance of mitochondrial degradation pathway in dystrophy.

Baumgartner HK et al. 2009. Calcium Elevation in Mitochondria Is the Main Ca2+ Requirement for Mitochondrial Permeability Transition Pore (mPTP) Opening. J Biol Chem. 284(31):20796-20803. DOI: 10.1074/jbc.M109.025353

            Another mechanism of calcium induced cell degradation, utilizing the mitochondrial PTP pathway to induce apoptosis.

Irintchev A, Zweyer M, Wernig A. 1997. Impaired functional and structural recovery after muscle injury in dystrophic mdx mice. Neuromuscul Disord. 7(2):117-125. DOI: 10.1016/S0960-8966(96)00422-1

            Inability of muscles to repair after continuous degradation and regeneration.

Heslop L, Morgan JE, and Partridge TA. 2000. Evidence for a myogenic stem cell that is exhausted in dystrophic muscle. 113:2299-2308.

            Inability of muscles to repair after continuous degradation and regeneration.

Burr AR and Molkentin JD. 2015. Genetic evidence in the mouse solidifies the calcium hypothesis of myofiber death in muscular dystrophy. Nature. 22(9):1402-1412. DOI: 10.1038/cdd.2015.65

            Review of calcium ion dysfunction in muscular dystrophies.

Angelini C and Peterle E. 2012. Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy. Acta Myol. 31(1):9-15.

            Review of steroid treatment in DMD. Useful mechanistic figure.

Berger. 2016. The sarcoglycan complex in skeletal muscle. Front Biosci. 21(4):744-756.

            Review of the sarcoglycan complex.

Allen DG and Whitehead NP. 2011. Duchenne muscular dystrophy – What causes the increased membrane permeability in skeletal muscle? Int J Biochem Cell Bio. 43(3):290-294

            Review of different theories of why dystrophic muscles exhibit increased membrane  permeability.

Kunkel LM. 2005. Cloning of the DMD gene. Am J Hum Genet. 76(2):205-214.     

            Speech/Lecture by Dr. Kunkel providing a good review outline for the history of DMD from its genetic identification through the characterization of dystrophin and the DAPC.

Mayo Clinic. 2020 Muscular dystrophy – Diagnosis and treatment. https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394

            Overview of current standard treatment options in DMD.

De Los Angeles Beytia M et al. 2012. Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. Acta Myol. 31(1):4-8.

            Further information on DMD drug options.

Biggar WD et al. 2001. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr. 138(1):45-50. DOI: 10.1067/mpd.2001.109601

            Analysis of the efficacy of the corticosteroid deflazacort in treating DMD.

DeSilva S et al. 1987. Prednisone Treatment in Duchenne Muscular Dystrophy: Long-term Benefit. Arch Neurol. 44(8):818-822. 10.1001/archneur.1987.00520200022012

            Desirable results in treating DMD with the corticosteroid prednisone.

Hoffman EP et al. 1990. Somatic reversion/suppression of the mouse mdx phenotype in vivo. J Neurol Sci. 99(1):9-25. DOI: 10.1016/0022-510x(90)90195-s

            Observation that some muscle fibers automatically restore dystrophin expression, via a spontaneous mutation that restores the reading frame.

Klein CJ et al. 1992. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet. 50(5):950-959.

            Further evidence of rare reversion of muscle fibers to dystrophin-positive.

Rifai Z et al. 1995. Effect of prednisone on protein metabolism in Duchenne dystrophy. Am J Physiol Endo Metabol. 268(1):E67-E74. DOI: 10.1152/ajpendo.1995.268.1.E67

            Evidence for inhibition of cytotoxic proteolysis through corticosteroids.

Anderson JE. 2000. Deflazacort Increases Laminin Expression and Myogenic Repair, and Induces Early Persistent Functional Gain in mdx Mouse Muscular Dystrophy. Cell Transplant. 9(4):551-564. DOI: 10.1177/096368970000900411

            Evidence for increased ability for muscle regeneration through corticosteroids.

Ball EH and Sanwal BD. 1980. A synergistic effect of glucocorticoids and insulin on the differentiation of myoblasts. Journal of Cellular Physiology. 102(1):27-36. DOI: 10.1002/jcp.1041020105

            Further evidence of corticosteroids inhibiting degradation pathways in dystrophic muscle.

Metzinger L. 1995. Modulation by prednisolone of calcium handling in skeletal muscle cells. British Journal of Pharmacology. 116(7):2811-2816. DOI: 10.1111/j.1476-5381.1995.tb15930.x

            Evidence of attenuation of calcium dysregulation in dystrophic muscle through corticosteroids.

Mann CJ et al. 2001. Antisense-induced exon skipping and synthesis of dystrophin in  the mdx mouse. Proc Natl Acad Sci U S A. 98(1):42-47.

            First use of exon skipping to show positive results in dystrophin restoration by skipping mutated exon 23 in mdx mouse.

Aartsma-Rus A et al. 2003. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet. 12(8):907-914. DOI: 10.1093/hmg/ddg100

            Demonstrates positive, if limited, effect of exon skipping in human DMD cells.    

De Angelis FG et al. 2002. Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in 48-50 DMD cells. Proc Natl Acad Sci. 99(14):9456-9461. DOI: 10.1073/pnas.142302299

            Example of exon skipping restoring a truncated dystrophin by restoring the reading frame via a deletion of exon 51 in an exon 48-50 deletion in dystrophin.

Aartsma-rus A et al. 2005. Functional Analysis of 114 Exon-Internal AONs for Targeted DMD Exon Skipping: Indication for Steric Hindrance of SR Protein Binding Sites. Oligonucleotides. 15(4):284-197. DOI: 10.1089/oli.2005.15.284

            Analysis/database of over a hundred different antisense oligonucleotides known to target different exons for use on various mutations. Additionally indicates progress 5 years since technique took off.

Kendall GC. 2012. Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy. Science Trans Med. 4(164):164ra160.

            Highlights current research addressing the issue of exon skipping efficacy by cotreatment with other drugs.

Horvath P and Barrangou R. 2010. CRISPR/Cas, the Immune System of Bacteria and Archaea. Science. 327(5962):167-170. DOI: 10.1126/science.1179555

            Original identification of the Crispr and Cas defense mechanism of certain bacteria.

Cong L et al. 2013. Multiplex Genome Engineering Using CRISPR/Cas Systems. Science. 339(6121):819-823. DOI: 10.1126/science.1231143

            Original identification of the potential use of CRISPR sequences and cas9 endonuclease to edit genomes and target specific sites with extreme accuracy.

Long C et al. 2014. Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA. Science. 345(6201):1184-1188. DOI: 10.1126/science.1254445

            First use of CRISPR/Cas9 to treat muscular dystrophy, demonstrating great promise as a potential DMD cure.

Young CS. 2016. A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell. 18(4):533-540. DOI: 10.1016/j.stem.2016.01.021

            Novel strategy in the use of CRISPR/cas9 in DMD treatment, targeting mutation hotspot of exons 45-55. A universal deletion of this region by CRISPR/Cas9 restores the reading frame and is relevant to two thirds of DMD patients due to the commonality of mutations at this region.

Zhang Y et al. 2020. Enhanced CRISPR-Cas9 correction of Duchenne muscular dystrophy in mice by a self-complementary AAV delivery system. Science Adv. 6(8). DOI: 10.1126/sciadv.aay6812

            Current research in CRISPR/Cas9 treatment involving improved delivery method of cas9 and sgRNA by a double stranded adeno-associated virus vector (which had previously normally been single stranded).

Echevarria L et al. 2018. Exon-skipping advances for Duchenne muscular dystrophy. Hum Mol Genet. 27. DOI: 10.1093/hmg/ddy171

            Figure source for exon-skipping diagram on page 3.

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