Rare Diseases & Orphan Drug

Duchenne muscular dystrophy (DMD) is an X chromosome-linked disease characterized by progressive physical disability, immobility and premature death in aff ected boys. Underlying the devastating symptoms of DMD is the loss of dystrophin, a structural protein that connects the extracellular matrix to

the cell cytoskeleton and provides protection against contraction-induced damage in muscle cells, leading to chronic peripheral infl ammation. However, dystrophin is expressed in neurons within specifi c brain regions, including the hippocampus, a structure associated with learning and memory formation. Linked to this, a subset of boys with DMD exhibit progressing cognitive dysfunction, with defi cits in verbal, short-term, and working memory. Furthermore, in the genetically comparable dystrophin-defi cient mouse model of DMD, some, but not all, types of learning and memory are defi cient, and specifi c defi cits in synaptogenesis and channel clustering at synapses has been noted. Little consideration has been given to the cognitive defi cits associated with DMD compared with the research conducted into the peripheral eff ects of dystrophin defi ciency. Th erefore, this review focuses on what is known about the role of full-length dystrophin (Dp427) in the hippocampal neurons. In this experiment, I hypothesized that 100 ug/ml of G. Lucidum would extend the lifespan and too much concentration of this herbal medicine would lose its effi cacy in treating this disease. A study was conducted through the reactions and lifespan of Caenorhabditis Elegans exhibiting the lack of dystrophin to the diff erent concentrations of G. Lucidum. As a result, the eff ect of G. Lucidum on the Caenorhabditis Elegans modeling Duchenne Muscular Dystrophy was astonishing as 100 ug/ml of G. Lucidum helped prolong the lifespan of these nematodes by 20%. Th is data can be refl ected onto the lifespan of humans with DMD as the 20% increase in lifespan of these nematodes could mean the prolonged life of 6-8 years for humans. However, too much concentration of G. Lucidum was shown not to aff ect the life of the worms. The hypothesized argument was proven correct as the results show the 20% increase of lifespan for the 100 ug/ ml of G. Lucidum concentration and the eff ect of too much concentration of this herbal method. Moreover, the use of herbal medicine like G. Lucidum could be a new inexpensive and attainable method of treatment for those diagnosed with DMD. Th e importance of dystrophin in learning and memory is assessed, and the potential importance that infl ammatory mediators, which are chronically elevated in dystrophinopathies, may have on hippocampal function is also evaluated.