Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction
Sinda Zarrouk Mahjoub1, Sounira Mehri, Fatma Ourda
1Unité d'Epidémiologie Génétique et Moléculaire, Tunis, Tunisie.
Cardiology
|June 1, 2011
Summary
Left ventricular hypertrabeculation/noncompaction (LVNC) is linked to mitochondrial DNA mutations. This study finds a potential association between LVNC and a specific mutation in the NADH dehydrogenase subunit 1 (ND1) gene.
Area of Science:
- Cardiology
- Genetics
- Mitochondrial Biology
Background:
- Left ventricular hypertrabeculation/noncompaction (LVNC) is a rare congenital heart condition.
- LVNC is often associated with mitochondrial DNA (mtDNA) mutations affecting cellular energy production.
Observation:
- A 16-year-old female presented with a systolic murmur, cardiomegaly, and multiple cardiac anomalies including LVNC.
- Echocardiography revealed tricuspid insufficiency, left ventricular dilatation, Ebstein's anomaly, and LVNC of the apex and lateral wall.
- LVNC was not observed in other family members.
Findings:
- Sequence analysis identified a homoplasmic m.3308T>C mutation in the NADH dehydrogenase subunit 1 (ND1) gene in the patient and several family members.
- This mutation leads to a methionine-to-threonine substitution in the ND1 subunit of respiratory chain complex I.
- The mutation was absent in 350 healthy controls.
Implications:
- This study suggests a potential association between the ND1 gene m.3308T>C mutation and the development of LVNC.
- The precise pathogenetic mechanism linking this mtDNA mutation to LVNC requires further investigation.
- This finding may contribute to understanding the genetic basis of congenital cardiomyopathies.
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