Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/6918
Title: The second case of saposin a deficiency and altered autophagy
Authors: Köse, Melis
Akyıldız Demir, Seçil
Akıncı, Gülçin
Eraslan, Cenk
Yılmaz, Ünsal
Ceylaner, Serdar
Sözmen Yıldırım, Eser
Seyrantepe, Volkan
Akyıldız Demir, Seçil
Seyrantepe, Volkan
Keywords: Saposin
Galactosylceramidase
Glycosphingolipid
Krabbe disease
Issue Date: 2018
Publisher: Springer Verlag
Source: Köse, M., Akyıldız Demir, S., Akıncı, G., Eraslan, C., Yılmaz, Ü., Ceylaner, S., Sözmen Yıldırım, E., and Seyrantepe, V. (2018). The second case of saposin a deficiency and altered autophagy. JIMD Reports. doi:10.1007/8904_2018_114
Abstract: Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A clinical manifestation almost identical to Krabbe disease is observed when, instead of the galactosylceramidase protein, the saposin A molecule is defective. Saposin A results from posttranslational processing of the precursor molecule, prosaposin, encoded by the PSAP gene. Clinical and neuroimaging findings in a 7-month-old child strongly suggested Krabbe disease, but this condition was excluded by enzymatic and genetic testing. However, at whole exome sequencing, the previously undescribed homozygous, obviously pathogenic PSAP gene NM_002778.3: c.209T>G(p.Val70Gly) variant was determined in the saposin A domain of the PSAP gene. Fibroblast studies showed GalCer accumulation and the activation of autophagy for the first time in a case of human saposin A deficiency. Our patient represents the second known case in the literature and provides new information concerning the pathophysiology of saposin A deficiency and its intralysosomal effects.
URI: http://doi.org/10.1007/8904_2018_114
http://hdl.handle.net/11147/6918
ISSN: 2192-8304
2192-8312
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection

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