Latest News on Muscular Dystrophy Research: Dec – 2019

X chromosome-linked muscular dystrophy (mdx) in the mouse

An X chromosome-linked mouse mutant (gene symbol, mdx) has been determined that has multiplied plasma degrees of muscle creatine kinase and pyruvate kinase and exhibits histological lesions feature of muscular dystrophy. The mutants display mild clinical signs and are feasible and fertile. Linkage evaluation with four X chromosome loci indicates that mdx maps within the Hq Bpa region of the mouse X chromosome. This offers a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equal genes on the human X chromosome. [1]

Dystrophin: The protein product of the duchenne muscular dystrophy locus

The protein made from the human Duchenne muscular dystrophy locus (DMD) and its mouse homolog (mDMD) had been identified with the aid of the use of polyclonal antibodies directed in opposition to fusion proteins containing two wonderful areas of the mDMD cDNA. The DMD protein is shown to be approximately four hundred kd and to represent approximately 0.002% of total striated muscle protein. This protein is also detected in clean muscle (stomach). Muscle tissue isolated from each DMD-affected boys and mdx mice contained no detectable DMD protein, suggesting that those genetic problems are homologous. Since mdx mice gift no obvious scientific abnormalities, the identity of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the deadly DMD phenotype. [2]

Profiles of neuromuscular diseases. Duchenne muscular dystrophy.

One hundred and sixty-two sufferers with Duchenne muscular dystrophy (DMD) had been observed over a 10-year duration to offer a profile of impairment and incapacity. The median height and weight of DMD boys had been usually distributed before a while 9-10, but all through the second one decade peak changed into markedly reduced, and weight become not typically allotted. Younger boys received more weight than normals, whereas older individuals actually showed weight loss. Manual muscle take a look at (MMT) measurements confirmed lack of power in a reasonably linear style from a long time five-thirteen year, -0.25 MMT gadgets according to year. Upper extremity muscular tissues had been more potent than decrease extremity muscle groups, proximal muscle organizations have been weaker than distal muscle agencies, and extensor muscle groups were weaker than flexor muscle mass. There turned into no facet dominance. There become a trade inside the rate of power loss at 14-15 yr, and the decline slowed to only -0.06 MMT units per year. Although MMT and quantitative strength measurement profiles were comparable, the latter have been far more sensitive. [3]

Increased Adenine Nucleotide Turnover in Duchenne Muscular Dystrophy

Summary: To inspect a possible disease of adenine nucleotide turnover in Duchenne muscular dystrophy, we evaluated 15 sufferers with mild Duchenne muscular dystrophy, eight patients with severe muscular dystrophy, seven patients with different neuromuscular problems, and eight patients with hypogammaglobulinemia however no muscle ailment. The serum urate concentration become similar in all 4 businesses. Base line urinary purine excretion was expanded in all sufferers with neuromuscular disorder with values of 1.72 ± zero.15, 2.37 ± 0.22, 2.49 ± 0.35, and a couple of.60 ± zero.Forty eight µmoles/a hundred ml glomerular filtration for manage topics, slight Duchenne muscular dystrophy, severe disorder, and different neuromuscular sicknesses, respectively. [4]

Anesthetic Management of a Pregnant Woman with Limb-girdle Muscular Dystrophy in the Caesarean Section: A Case Study

In a look at, we gift the case of a 33-year-old obese patient with limb-girdle muscular dystrophy (LGMD) admitted for cesarean section. The affected person changed into efficiently controlled by way of emergency caesarean section below spinal anesthesia. On bodily exam after the operation, the force of the top and lower extremity muscle mass were anticipated to be four/five and three/5, respectively. In this situation, in place of epidural anesthesia we used spinal anesthesia, which is a secure approach recommended for emergency cesarean phase in pregnant LGMD sufferers. [5]

Reference

[1] Bulfield, G., Siller, W.G., Wight, P.A. and Moore, K.J., 1984. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proceedings of the National Academy of Sciences, 81(4), (Web Link)

[2] Hoffman, E.P., Brown Jr, R.H. and Kunkel, L.M., 1987. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51(6), (Web Link)

[3] McDonald, C.M., Abresch, R.T., Carter, G.T., Fowler, J.W., Johnson, E.R., Kilmer, D.D. and Sigford, B.J., 1995. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. American journal of physical medicine & rehabilitation, 74(5 Suppl), (Web Link)

[4] Increased Adenine Nucleotide Turnover in Duchenne Muscular Dystrophy
Tulio E Bertorini, Genaro M A Palmieri, Diana Airozo, N Lawrence Edwards & Irving H Fox
Pediatric Research volume 15, (Web Link)

[5] Javan, J., Ameli, K., Moshref, M., Saberi, M. and Pakniat, H. (2017) “Anesthetic Management of a Pregnant Woman with Limb-girdle Muscular Dystrophy in the Caesarean Section: A Case Study”, International Journal of Medical and Pharmaceutical Case Reports, 10(3), (Web Link)

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