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From Proteopedia
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Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a recessively inherited disease that is associated with a decreases in PPT-1 activity due to mutations of the PPT-1 enzyme. Onset of symptoms which include retinal blindness, ataxia, seizures, and cortical atrophy of the brain, begin 1-2 years after birth. Death typically occurs between the ages of 8-11. Several mutations in the 1p32 chromosome have been identified to cause INCL. | Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a recessively inherited disease that is associated with a decreases in PPT-1 activity due to mutations of the PPT-1 enzyme. Onset of symptoms which include retinal blindness, ataxia, seizures, and cortical atrophy of the brain, begin 1-2 years after birth. Death typically occurs between the ages of 8-11. Several mutations in the 1p32 chromosome have been identified to cause INCL. | ||
| + | [[Image:All_mutations.jpg|100px|right|thumb|Mutations Associated with INCL]] | ||
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. | 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. | ||
IMAGE!!!! | IMAGE!!!! | ||
| - | (Bellizzi J. Widom J. Kemp. Lu J. Das K. Hofmann L. Jon Clardy J. 2000. The crystal structure of palmitoyl protein thioesterase1 and the molecular basis of infantile neuronal ceroid | + | (Bellizzi J. Widom J. Kemp. Lu J. Das K. Hofmann L. Jon Clardy J. 2000. The crystal structure of palmitoyl protein thioesterase1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. Biochemistry. 97: 4573-4578) |
| - | Unfortunately not much is known on how to treat INCL. However, in both JNCL and LINCL activity of PPT-1 | + | Unfortunately not much is known on how to treat INCL. However, in both JNCL and LINCL activity of PPT-1 has only a 2% activity rate compared to normal PPT-1 activity. This suggests that a small increase in activity of PPT-1 may aid in delaying the symptoms associated with INCL. One way in which to increase the activity of PPT-1 is to use protein chaperons that help refold PPT-1 in the endoplasmic reticulm. Although this is not a cure for INCL, by increasing the activity of PPT-1 the life expectancy for individuals with INCL can be greatly increased. |
Revision as of 23:54, 2 April 2014
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