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Mutation Spectrum of Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. | LitMetric

AI Article Synopsis

  • * Recent research has improved understanding of PD, emphasizing the need for timely diagnosis and highlighting a study of 2934 Italian subjects to gather new data on the disease.
  • * Genetic analysis identified 39 symptomatic PD patients with low enzyme levels and specific mutations, along with 22 individuals with uncertain genetic variants, underscoring the variability in PD presentation.

Article Abstract

Studying a patient with Pompe disease (PD) is like opening Pandora's box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rare disease. In recent years, scientific interest in this disease has been growing more and more, but still no symptom is recognized as key to a correct diagnosis of it, nor is there any specific disease marker to date. New diagnostic/therapeutic proposals on disease allow for the diffusion of knowledge of this pathology for timely diagnosis of the patient. Due to unawareness and difficulty in diagnosis, many adults with PD are diagnosed with great delay. In this article, we report and discuss current knowledge of PD and provide new data from work conducted on a cohort of 2934 Italian subjects recruited in recent years. A genetic analysis of the gene was performed on patients with significant clinical signs and pathological enzyme activity to define the genetic profile of subjects. This identified 39 symptomatic PD subjects with low acid alpha-glucosidase enzyme activity and the presence of two causative mutations in gene regions. Furthermore, 22 subjects with genetic variants of uncertain significance (GVUS) were identified.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11394944PMC
http://dx.doi.org/10.3390/ijms25179139DOI Listing

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