Seminario 15 Patrones de herencia no clásicos 1 - Tomas Falzone

Hi how are things? And we're going to start seminar number 16 today. Uh, and I recommend you watch numbers 16 and 17. Uh, next we're going to be talking about non-classical inheritance patterns. This is going to be the seminar on non-classical inheritance patterns one, where we're going to focus on mitochondrial inheritance, and then we're going to see

seminar number 17, which is the classical patterns 2, where we'll be talking about triplet expansion and also imprinting. So, to begin today's seminar, we're going to talk about these three possibilities involving inheritance patterns that don't follow classic patterns. And we're going to understand why. We will understand that some of these patterns could have a

classic behavior once they are determined within a family. Okay? Um, mainly in diseases with tepplete expansion and in the next seminar we will also see the imprinting phenomenon, but today or now we are going to concentrate on mitochondrial inheritance and for that we are going to try to understand as an objective that we

have to know the molecular mechanisms uh and of inheritance associated with these mitochondrial entities. The concept of threshold is present in these diseases and is associated with a cellular energy balance that determines when, under certain conditions, a disease phenotype appears given a coexistence of healthy and damaged mitochondria. To understand the diagnostic approaches in

order to be able to determine or understand the abnormalities or molecular mechanisms in mitochondrial diseases and to relate the characteristics of the trees in order to be able to determine or discriminate it with other entities. To begin this workshop, we will go back to the 1980s with the advancement of sequencing and the first