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Genes
Volume 14
Issue 3
10.3390/genes14030567
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Article
Peer-Review Record

Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies

Genes 2023, 14(3), 567; https://doi.org/10.3390/genes14030567
by Shivangi Attri 1, Moien Lone 2, Amit Katiyar 3, Vikas Sharma 3, Vinay Kumar 4,5, Chaitenya Verma 6 and Suresh Kumar Gahlawat 1,*
Reviewer 1:
Elisabetta Gazzerro
Reviewer 2:
Patrizia LoPresti
Genes 2023, 14(3), 567; https://doi.org/10.3390/genes14030567
Submission received: 23 December 2022 / Revised: 10 February 2023 / Accepted: 22 February 2023 / Published: 24 February 2023
(This article belongs to the Special Issue Genetics of Muscular Dystrophies from Pathogenesis to Gene Therapy)

Round 1

Reviewer 1 Report

Attri et al. found  a deregulation of different lincRNAs, among which Col6A3 in an heterologous system  (HEK293 cells) carrying the V727M sequence variant in the GNE gene. They confirm the relevance of this finding by using GEO expression databases in primary myoblasts isolated from patients affected by hereditary inclusion body myopathy, and by analyzing the transcriptome of GneM743T/M743T mutated mice.

The work needs major revisions. The deregulation of Col6A3 needs to be confirmed in primary myoblasts or muscle cell lines carrying the V727M GNE mutation. The description of the analysis of the GEO expression database from patients  is not clear to the reader. How many patients were analyzed? The all had the Mutation M712T? The reader has no information of the clinical impact of this mutation in respect to the V727M.

In the analysis of other muscle diseases, all the data come from myositis. The only hereditary myopathy is tibial muscular dystrophy. It is interesting that this molecule is deregulated in myositis. However, the Authors wrote that they searched using the term "myopathy". Therefore the process of analysis is not clear. What did they found in other muscular dystrophies? How high was the deregulation of Col6A3 in GNE Myopathy in comparison to the myositis. The quantification of this difference is not clear.

Author Response

Please see the attachment

Author Response File: Author Response.pdf

Reviewer 2 Report

The article describes that genetic analysis of HIBM myopathy specific GNE V727M 2 hotspot mutation identifies a novel COL6A3 allied gene signature that is also deregulated in multiple neuromuscular diseases and myopathies. 

The work is an important contribution to the field. 

Author Response

Please see the attachment

 

Author Response File: Author Response.docx

Round 2

Reviewer 1 Report

The Authors ahve answered  my questions.

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