Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children

2021 ◽  
Author(s):  
Joenna Driemeyer ◽  
Tasja Scholz ◽  
Deike Weiss ◽  
Axel Neu ◽  
Jessika Johannsen ◽  
...  
2020 ◽  
Vol 45 (6) ◽  
pp. 789-792
Author(s):  
M. S. Abd Elmaksoud ◽  
N. S. Gomaa ◽  
H. G. Azouz ◽  
C. N. V. On ◽  
C. T. Ho ◽  
...  

2019 ◽  
Vol 39 (4) ◽  
Author(s):  
David J. Timson

Abstract A recent paper in Bioscience Reports (BSR20182189) describes the discovery of an interaction between the motor protein myosin Va and the metabolic enzyme spermine synthase. Myosin Va is a molecular motor which plays a key role in vesicle transport. Mutations in the gene which encodes this protein are associated with Griscelli syndrome type 1 and the ‘dilute’ phenotype in animals. Spermine synthase catalyzes the conversion of spermidine to spermine. This largely cytoplasmic enzyme can also be localized to the soluble fraction in exosomes. Mutations in the spermine synthase gene are associated with Snyder Robinson mental retardation syndrome. The interaction between the two proteins was detected using the yeast two hybrid method and verified by microscale thermophoresis of recombinant proteins. Knockdown of the MYO5A gene reduced the expression of mRNA coding for spermine synthase. The amount of this transcript was also reduced in cells derived from a patient with Griscelli syndrome type 1. This suggests that, in addition to a direct physical interaction between the two proteins, myosin Va also modulates the transcription of the spermine synthase gene. The mechanism for this modulation is currently unknown. These findings have implications for Griscelli syndrome type 1 and Snyder Robinson mental retardation syndrome. They also suggest that interactions between myosin Va and soluble exosome proteins such as spermine synthase may be important in the mechanism of exosome transport.


2009 ◽  
Vol 18 (3) ◽  
pp. 145-148 ◽  
Author(s):  
Ellen R. Thomas ◽  
Lisa J. Walker ◽  
Sunil Pullaperuma ◽  
Beatrice Cooper ◽  
Louise A. Brueton ◽  
...  

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr

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).


2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim

2018 ◽  
Vol 60 (3) ◽  
pp. 78
Author(s):  
Yasin Demir ◽  
Ümüt Güzelküçük ◽  
Serdar Kesikburun ◽  
Berke Aras ◽  
Mehmet Ali Taşkaynatan ◽  
...  

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