Voprosy meditsinskoi khimii (ISSN 0042-8809)

Deficiency of tripeptidyl peptidase I inneuronal ceroid lipofuscinosis. Novel mutation

   


1. Research Centre for Medical Genetics RAMS
2. Institute of Biomedical Chemistry Russian Academy of Medical Sciences (RAMS)
3. Institute of Pediatrics and Child Surgery, Ministry of Public Health of Russian Federation
4. Russian Child Clinical Hospital, Ministry of Public Health of Russian Federation
PubMed Id: 12698559
Year: 2002 vol: 48  issue:6  pages: 594-598
Abstract: The data on biochemical and molecular-genetic diagnotics of a hereditary lisosomalstorage disease, late infantile neuronal ceroid lipofuscinosis CLN2) are presented. Thedisease is associated with a hereditary deficiency of pepstatin-unsensitive peptidase -tripeptidylpeptidase I (TPP1) - caused by mutations in the TPP1-coding gene CLN2). Amongthe 30 patients with clinical manifestations of CLN, six patients with a pronounceddecrease in TPP1 activity were revealed; these data were interpreted as indicating thepresence of CLN2 in these patients. The analysis of the isolated DNA indicated theavailability of the most widespread mutation g3670C>T(R208X) leading to the untimelytermination of TPP1 synthesis. It was shown that in 5 patients this mutation is present inhomozygous state and in one patient, in the heterozygous state. In this latter patient ahitherto unknown mutation, g3665G>A (R206H), was revealed. The pathogeneticsignificance of this mutation and the importance of molecular-genetic diagnosis of CLN arediscussed with regard to medico-genetic consulting and prenetal diagnosis of this disease.
Download PDF:
Reference: Boukina A.M., Tsvetkova I.V., Semyachkina A.N., Ilyina E.S., Deficiency of tripeptidyl peptidase I inneuronal ceroid lipofuscinosis. Novel mutation, Voprosy meditsinskoi khimii, 2002, vol: 48(6), 594-598.
References
 2002(Vol:48)
 2001(Vol:47)
 2000(Vol:46)
 1999(Vol:45)
 1998(Vol:44)
 1997(Vol:43)
 1996(Vol:42)