Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Article Abstract:

A study identified three mutations such as V626F, L619F and N471D in the KIAA0196 gene in six families that map to the eighth hereditary spastic paraplegia (HSP) locus, SPG8. Results reveal that none of these are identified in 500 control individuals but L619 and V626 residues are strictly conserved across species and have notable effect on the protein product strumpellin.

Gene mutations, Gene mutation, Structure, DNA microarrays, Report, Paralysis, Spastic, Spastic paraplegia

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Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of [alpha]-synuclein

Article Abstract:

The article discusses the various factors, including the fibroblast growth factor 20 (FGF20) that are responsible for the Parkinson disease (PD) in humans. The results show that the variations in microRNA binding sites of FGF20 often increase the risk of the disorder due to the overexpression of [alpha]-synuclein.

Parkinson's disease, Parkinson disease, DNA-ligand interactions, DNA binding

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