Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: identification of deletions and variants Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.
Gene expression is regulated at several points along the pathway from DNA to protein. A crucial point of regulation is transcription, which is responsible for a large proportion of the variation in expression profiles. Changes in gene expression may be triggered by mutation in
cis
‐regulatory elements (CREs) and
trans
‐regulatory elements (TREs). It is induced by environmental stress, which plays a major role in the evolution of living organisms. These regulators control transcription of genes and are located in the same chromosome and/or in both homologous chromosomes, respectively. The transcription of genes may explain phenotypic differences in morphology, physiology, and behavior.
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