Genetic Mutations Linked To Als And Other Mn Ds

1240 words - 5 pages

In contrast to the slow progression ALS phenotype presented by the p.V31A mutation, research by Rosanna Tortelli, and fellow researchers, has reported the discovery of a novel missense mutation of the SOD1 gene whose phenotype is representative of a very rapidly progressive and aggressive ALS; this research further confirms the possibility of a strong genotype-phenotype correlation for distinct SOD1 mutations. Tortelli’s research identified a heterozygous mutation in exon 4 of the SOD1 gene that results in the amino acid substitution from arginine to cysteine at positions 115 (p.R115C). The p.R115C mutation was identified from genetic analysis of a DNA sample obtained from a 74 year old Caucasian male who subsequently was diagnosed with ALS after progression of weakness in the right hand that lead to severe tetraparesis and atrophy of upper and lower limbs within a period of 10 months. [3]
Following the identification of SOD1 aggregates in ALS patients, in 2006, TDP43 was identified as a major component of ubiquitinated inclusions both FTLD and ALS cases. TDP-43 is involved in nuclear RNA metabolism, transcriptional repression, micro RNA synthesis, mRNA nucleocytoplasmic shuttling and RNA transport. Most of the mutations that occur to TDP-43, have been observed to be localized in the C-terminal glycine-rich domain of the protein. [4] TDP-43 as a link between frontotemporal lateral degeneration and ALS is relatively new, and requires further research; however, Researchers from the University of Massachusetts Medical, have recently discovered that during the conversion of TDP-43 between its alternative folded states that TDP-43 has an intermediate state that possesses a high risk to misfold, causing the loss of function. It is believed to be the first step in forming aggregates. [5] This study offers further insight into the normal function of TDP-43, by the additional understanding of the TDP-43 converting between alternative folding states, which is required for TDP-43 to perform its normal job. With continued research, treatments may be designed which aid in preventing TDP-43’s propensity to misfold, aiding in the treatment of TDP-43 linked diseases such as ALS.
Due to the variance amongst gene mutations and the forms of ALS that they induce, coupled with poor understanding of the pathogenesis of ALS, treatment has been mainly restricted to alleviating symptoms as compared to preventing the disease itself. Currently, there is only one medications approved by the Food and Drug Administration for the treatment of ALS. The drug riluzole (Rilutek) appears to slow the progression of ALS in some patients, and may be attributed to the reduction of glutamate chemical messengers that generally present in higher level amongst patients with ALS. Medications are also prescribed to provide relief of other ALS related symptoms, and sometimes the side effects of other drugs. Drugs may be prescribed to treat muscle cramp and spasms, spasticity, constipation,...

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