Kearns Sayre Syndrome and Chronic Progressive External Ophtalmoplegia: mitochondrial DNA deletions detected by MLPA

MAYORGA L; LAURITO S; LOOS M; EIROA H; DE PINHO S; LUBIENIECKI F; ARROYO H; KAUFFMAN MA; ROQUE M

Congreso; ANNUAL MEETING OF THE SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM; 2014

Mitochondrial diseases are among the most frecuent inborn errors of metabolism. The complexity of the mitochondrial machinery and its dual genetic origin, make them a heterogeneous goup of illnesses with a challenging diagnostic approach. Genetic diagnosis starts looking for rearrangements in the 16.5 kb mtDNA. MLPA is used to detect copy number variations in nuclear genes, and its use in mtDNA has not yet been applied widely. We present here a Kearns Sayre Syndrome patient and a Chronic Progressive External Ophtalmoplegia patient whose deletions were detected by MLPA. We show how an enhanced normalization process and/or diluting nuclear DNA to withdraw the interference of ¨Numts¨ make this method a very convenient starting study for mitochodrial disorders.