Sandbox Reserved 191: Difference between revisions

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Juvenile NCL (JNCL) and Late-infantile NCL (LINCL)are less severe forms of INCL in which onset of symptoms occur much later in life; between the ages of 30-40. The mutations associated with JNCL and LINCL occur away from the active site of PPT-1 resulting in a higher activity of the PPT-1 enzyme. A common mutation associated with JNCL and LINCL involves the mutation of Thr-75.<ref name="mutations" />
Juvenile NCL (JNCL) and Late-Infantile NCL (LINCL) are less severe forms of INCL in which onset of symptoms occur much later in life; between the ages of 30-40. A possible explanation for the later onset of symptoms could be that the mutations associated with JNCL and LINCL occur away from the active site of PPT-1. Since the mutation does not affect the active site this results in a higher activity of the PPT-1 enzyme. A common mutation associated with JNCL and LINCL involves the mutation of Thr-75, an amino acid located on the alpha-1 helix of PPT-1 (Figure 4). The Thr-75 amino acid is located 20.6Å away from the active site of PPT-1 which indicates that Thr-75 plays no role in the catalytic activity of the catalytic triad.  
<ref name="mutations" />




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