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Analysis of mitochondrial function in patients with constitutional variants of growth and puberty

Abstract

Individuals with constitutional delay of growth and puberty (CDGP) have a short stature, tend to be slim and need to reduce spending on growth and pace of development to maintain energy balance. As an opposite evolutionary standard some individuals appear a somatic growth and pubertal maturation faster than the median of the population, denominated constitutional acceleration of growth and puberty (CAGP). These individuals, differently of CDGP, come out with weight gain in the borderline range of over nutrition, improved growth and precocious beginning and end of puberty.. Patients with CDGP appear with negative energetic balance related with the growth and puberty delay. On the other hand, patients with CAGP appear positive energetic balance associated with the acceleration of growth and puberty. The cellular metabolism, growth and energy balance are related with the mitochondrial efficiency. Our hypothesis is that different mitochondrial function associated with polymorphisms in the mtDNA may be related with the variants of development like CDGP and CAGP. The aim of this project is analyze the mitochondrial function and also identified and correlates the mtDNA SNP's on CDGP and CAGP patients. To analyze cell respiration, the major pathway of cellular energy will be employed the XFe Extracellular Flux Analyzers methodology (Seahorse Bioscience) and next generation sequenced will be used to analysis the mtDNA SNP's of select patients. With this project we intend to establish new methodologies lines, targeting the genetic, molecular and cellular knowledge of mitochondria allowing progress in the investigations regarding the variations of growth and puberty. (AU)

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