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Myofibrillar myopathy in the genomic context
Jakub Piotr Fichna1, Aleksandra Maruszak2, Cezary Żekanowski2
1Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland. jfichna@imdik.pan.pl.
Journal of Applied Genetics
|September 12, 2018
Summary
Myofibrillar myopathy (MFM) is a genetic disorder with varied symptoms. Next-generation sequencing helps identify new genes and understand how genetic variants influence disease severity.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Myofibrillar myopathy (MFM) presents diagnostic challenges due to overlapping symptoms and phenotypic heterogeneity.
- Understanding the genetic basis of MFM is crucial for accurate diagnosis and explaining variable clinical courses.
Purpose of the Study:
- To review the genetic heterogeneity of MFM.
- To highlight the role of rare variants and whole genome sequencing in identifying novel disease-causing mutations.
- To discuss the concept of variant load in MFM's phenotypic variability.
Main Methods:
- Review of current literature on MFM genetics.
- Analysis of next-generation sequencing (NGS) findings.
- Discussion of identified causative genes and genomic variants.
Main Results:
- Pathogenic mutations in 17 genes are associated with MFM and related phenotypes.
- NGS has been instrumental in discovering novel MFM-associated genes.
- Numerous genomic variants are found in MFM patients, suggesting a disease continuum.
Conclusions:
- The genetic landscape of MFM is complex and heterogeneous.
- Whole genome sequencing is vital for uncovering new MFM mutations.
- Variant load may explain the diverse clinical presentations in MFM patients.
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