AI Article Synopsis
- The m.14453G > A mutation in MT-ND6 is linked to mitochondrial conditions like Leigh syndrome, but its full clinical and molecular impact remains unclear.
- Four infantile patients with this mutation were studied, all showing brainstem and basal ganglia lesions, with some also experiencing heart issues.
- The study found reduced ND6 protein expression in patient samples, but did not establish a clear link between mutation levels and the age of onset or symptoms, although infantile onset was distinctly associated with Leigh syndrome.
Article Abstract
The m.14453G > A mutation in MT-ND6 has been described in a few patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes or Leigh syndrome.However, the clinical spectrum and molecular characteristics are unclear.Here, we present four infantile-onset patients with m.14453G > A-associated Leigh syndrome. All four patients had brainstem lesions with basal ganglia lesions, and two patients had cardiac manifestations. Decreased ND6 protein expression and immunoreactivity were observed in patient-derived samples. There was no clear correlation between heteroplasmy levels and onset age or between heteroplasmy levels and phenotype; however, infantile onset was associated with Leigh syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mito.2021.12.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!