Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A brief review and update

Dinesh Rakheja, Srinivas B. Narayan, Michael J. Bennett

Research output: Contribution to journalReview article

26 Scopus citations

Abstract

Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most common inherited, autosomal recessive, neurodegenerative disorder in man. Like the other neuronal ceroid-lipofuscinoses, it is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature demise. JNCL it caused by mutations of CLN3, a gene that encodes a hydrophobic transmembrane protein, which localizes to membrane lipid rafts in lysosomes, endosomes, synaptosomes, and cell membrane. While the primary function of the CLN3 protein (CLN3P) may be debated, its absence affects numerous cellular functions including pH regulation, arginine transport, membrane trafficking, and apoptosis. We have recently suggested that the unifying primary function of CLN3P may be in a novel palmitoyl-protein Δ-9 desaturase (PPD) activity that in our opinion could explain all of the various functional abnormalities seen in the JNCL cells. Another group of researchers has recently shown a correlation between the CLN3P expression and the synthesis of bis(monoacylglycerol)phosphate (BMP) and suggested that CLN3P may play a role in the biosynthesis of BMP. In this review, following an introduction to the neuronal ceroid-lipofuscinoses, we provide a brief overview and an update of the most recent research in JNCL, specifically that related to the function of CLN3P.

Original languageEnglish (US)
Pages (from-to)603-608
Number of pages6
JournalCurrent molecular medicine
Volume7
Issue number6
DOIs
StatePublished - Sep 1 2007

Keywords

  • Bis(monoacylglycerol)phosphate
  • Congenital neuronal ceroid-lipofuscinosis
  • Neuronal cytoplasm
  • Santavuori-Haltia disease
  • Synaptosomes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology

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