Phylogenetic analysis of mitochondrial DNA in a patient with Kearns–Sayre syndrome containing a novel 7629-bp deletion

Abstract

Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns–Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9–10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.

Keywords::

• Disease
• native American
• haplogroup

Acknowledgements

We want to thank Magdalena Carreras Arribas for her support as a technician.

Declaration of interest : Part of this research was performed during a sabbatical year of Dr Montiel-Sosa at the Department of Biochemistry and Molecular and Cellular Biology at the Universidad de Zaragoza España through a scholarship from the Dirección General de Asuntos del Personal Académico from UNAM. This work was also supported by grant PICSA10-189 (Instituto de Ciencia y Tecnología del Distrito Federal, 01/11/2010-2011). The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.