Mutational analysis of the equine Cu/Zn superoxide dismutase (SOD1) and amyotrophic lateral sclerosis (ALS2) in horses of Pakistani origin: No evidence found for motor neuron disease
Paper Details
Mutational analysis of the equine Cu/Zn superoxide dismutase (SOD1) and amyotrophic lateral sclerosis (ALS2) in horses of Pakistani origin: No evidence found for motor neuron disease
Abstract
Equine motor neuron disease (EMND) is a spontaneous neurologic disorder of adult horses which results from the degeneration of motor neurons in the spinal cord and brain stem. The etiology of EMND disease in the south Asian region is not well understood. To achieve the objective of the study, blood samples were collected from horses affected with EMND and DNA was purified by inorganic method. We sequenced both equine copper/zinc superoxide dismutase (SOD1) gene and equine ALS2 gene from 10 horses of Pakistani origin diagnosed with equine motor neuron disease (EMND) similar to amyotrophic lateral sclerosis (ALS) in humans. The 1359 nucleotidesSOD1 coding region in the horse genome encodes 453 amino acids residues. Equine SOD1 exhibits 84 and 79.9% sequence identity to the human homolog at the nucleotides and amino acids levels, respectively. As a result, no mutation was found in SOD1 in any of the 10 affected horses while in case of horse ALS2 gene that consists of 41 exons, two missense (p.Val83Ile; p.Leu305Arg) and one synonymous (p.Thr410Thr) genetic variants were identified in the ALS2 gene. In addition, 50 normal control samples of Pakistani horses were sequenced representing the 40% of both the missense mutations. Our results suggest that both of the genes were not involved in causing motor neuron disease in horses.
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