scholarly journals Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

2018 ◽  
pp. 71-76 ◽  
Author(s):  
Christina Peroutka ◽  
Jacqueline Salas ◽  
Jacquelyn Britton ◽  
Juliet Bishop ◽  
Lisa Kratz ◽  
...  
Keyword(s):  
Liver Failure ◽  
Trna Synthetase ◽  
Syndrome Type ◽  
Synthetase Deficiency

scholarly journals Leucyl-tRNA Synthetase Deficiency Systemically Induces Excessive Autophagy in Zebrafish

2021 ◽  
Author(s):  
Hiroshi Shiraishi ◽  
Nobuyuki Shimizu ◽  
Mika Tsumori ◽  
Kyoko Kiyota ◽  
Miwako Maeda ◽  
...  
Keyword(s):  
Liver Failure ◽  
Mammalian Target Of Rapamycin ◽  
Trna Synthetase ◽  
Biallelic Mutation ◽  
Synthetase Deficiency ◽  
Morpholino Knockdown ◽  
Mtorc1 Activation ◽  
Early Lethality

Abstract Leucyl-tRNA synthetase (LARS) is an enzyme that catalyses the ligation of leucine with leucine tRNA. LARS is also essential to sensitize the intracellular leucine concentration to the mammalian target of rapamycin complex 1 (mTORC1) activation. Biallelic mutation in the LARS gene causes infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute liver failure, anaemia, and neurological disorders, including microcephaly and seizures. However, the molecular mechanism underlying ILFS1 under LARS deficiency has been elusive. Here, we generated Lars deficient (larsb-/-) zebrafish that showed progressive liver failure and anaemia, resulting in early lethality within 12 days post fertilization. The atg5-morpholino knockdown and bafilomycin treatment partially improved the size of the liver and survival rate in larsb-/- zebrafish. These findings indicate the involvement of autophagy in the pathogenesis of larsb-/- zebrafish. Indeed, excessive autophagy activation was observed in larsb-/- zebrafish. Therefore, our data clarify a mechanistic link between LARS and autophagy in vivo. Furthermore, autophagy regulation by LARS could lead to development of new therapeutics for IFLS1.

scholarly journals Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Masanori Inoue ◽  
Hiroaki Miyahara ◽  
Hiroshi Shiraishi ◽  
Nobuyuki Shimizu ◽  
Mika Tsumori ◽  
...  
Keyword(s):  
Liver Failure ◽  
Mammalian Target Of Rapamycin ◽  
Trna Synthetase ◽  
Biallelic Mutation ◽  
Synthetase Deficiency ◽  
Morpholino Knockdown ◽  
Mtorc1 Activation ◽  
Early Lethality

AbstractLeucyl-tRNA synthetase (LARS) is an enzyme that catalyses the ligation of leucine with leucine tRNA. LARS is also essential to sensitize the intracellular leucine concentration to the mammalian target of rapamycin complex 1 (mTORC1) activation. Biallelic mutation in the LARS gene causes infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute liver failure, anaemia, and neurological disorders, including microcephaly and seizures. However, the molecular mechanism underlying ILFS1 under LARS deficiency has been elusive. Here, we generated Lars deficient (larsb−/−) zebrafish that showed progressive liver failure and anaemia, resulting in early lethality within 12 days post fertilization. The atg5-morpholino knockdown and bafilomycin treatment partially improved the size of the liver and survival rate in larsb−/− zebrafish. These findings indicate the involvement of autophagy in the pathogenesis of larsb−/− zebrafish. Indeed, excessive autophagy activation was observed in larsb−/− zebrafish. Therefore, our data clarify a mechanistic link between LARS and autophagy in vivo. Furthermore, autophagy regulation by LARS could lead to development of new therapeutics for IFLS1.

scholarly journals Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

2015 ◽  
Vol 38 (6) ◽  
pp. 1085-1092 ◽  
Author(s):  
Jillian P. Casey ◽  
Suzanne Slattery ◽  
Melanie Cotter ◽  
A. A. Monavari ◽  
Ina Knerr ◽  
...  
Keyword(s):  
Liver Failure ◽  
Syndrome Type ◽  
Genetic Characterisation ◽  
Recessive Mutations

scholarly journals Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

2020 ◽  
Vol 22 (11) ◽  
pp. 1863-1873 ◽  
Author(s):  
Dominic Lenz ◽  
Desirée E. C. Smith ◽  
Ellen Crushell ◽  
Ralf A. Husain ◽  
Gajja S. Salomons ◽  
...  
Keyword(s):  
Liver Failure ◽  
Genotypic Diversity ◽  
Syndrome Type ◽  
Phenotypic Spectrum

Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr
Keyword(s):  
Clinical Practice ◽  
Complex Regional Pain Syndrome ◽  
Somatoform Disorders ◽  
International Association ◽  
Pain Syndrome ◽  
Somatoform Disorder ◽  
Syndrome Type ◽  
Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

Management of Complex Regional Pain Syndrome Type 1 with Barbiturate Coma Therapy -A case report-

2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim
Keyword(s):  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Barbiturate Coma

Complex regional pain syndrome type 1 in young adults

2018 ◽  
Vol 60 (3) ◽  
pp. 78
Author(s):  
Yasin Demir ◽  
Ümüt Güzelküçük ◽  
Serdar Kesikburun ◽  
Berke Aras ◽  
Mehmet Ali Taşkaynatan ◽  
...  
Keyword(s):  
Young Adults ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type
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