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Neural Development of Drosophila Homologs of Human Neurofibromatosis and Juvenile Neuronal Ceroid Lipofuscinosis
Author(s) -
Bragg Jack,
Balouch Bailey,
ChuLaGraff Quynh
Publication year - 2016
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.30.1_supplement.1181.1
Subject(s) - neurofibromin 1 , neuronal ceroid lipofuscinosis , biology , neurofibromatosis , neuroscience , neural development , batten disease , microbiology and biotechnology , pathology , genetics , gene , medicine
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a juvenile onset neurodegenerative disease associated with the intracellular accumulation of ceroid lipofuscin in central and peripheral neural tissues. Loss of function mutation in the Ceroid Lipofuscinosis Neuronal‐3 (CLN3) gene is suspected to be the primary cause for JNCL, although the normal function of the protein product is yet to be understood. Neurofibromatosis type 1 (NF‐1) is a genetic disorder caused by the loss of the highly conserved Ras GTPase‐activating protein, Neurofibromin. Affecting an estimated 1 in 3000 individuals, NF‐1 is characterized by abnormal skin and bone pigmentation, and predisposition to peripheral nerve associated tumors. Although both genes are expressed in various regions of the developing brain, the underlying mechanisms of how alterations in these expressions lead to JNCL and NF1 diseases are not well known. In this study, we use Drosophila melanogaster as models to investigate the role of CLN3 and Neurofibromin during embryonic development of the nervous system. Using in situ immunostaining using various neural and axonal markers such as BP102 and FASII, axon guidance and ventral nerve cord organization was studied in embryos homozygous for the CLN3 and Neurofibromin genes at stage 16 of CNS and PNS embryonic development. We will present results to determine whether these genes have a developmental role during embryonic neurogenesis. If so, these studies could potentially uncover new mechanisms toward understanding the pathology of the human diseases.