Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen. When mitochondria fail to fulfill those functions properly in the cell, many different maladies, including death, can occur. Humans inherit mitochondria from the mother through the egg cell, and all the mtDNA molecules in a person are identical to each other. But the mutation rate is much higher in the mtDNA than in nuclear DNA, and some individuals may have more than one type of mtDNA. As egg cells develop, they divide via a process called meiosis. As egg cells divide, mitochondria of different types can randomly segregate in some new cells but not in others. As a result, two offspring from the same female might differ in their types of mitochondria. Random amounts of the two mitochondria types can lead to some offspring inheriting a mitochondrial disease or developmental abnormalities while others are normal.
The term morphogenesis generally refers to the processes by which order is created in the developing organism. This order is achieved as differentiated cells carefully organize into tissues, organs, organ systems, and ultimately the organism as a whole. Questions centered on morphogenesis have aimed to uncover the mechanisms responsible for this organization, and developmental biology textbooks have identified morphogenesis as one of the main challenges in the field. The concept of morphogenesis is intertwined with those of differentiation, growth, and reproduction. Each comprises the fundamental components of development that have commonly been used to categorize the problems that motivate developmental biology.
Early development occurs in a highly organized and orchestrated manner and has long attracted the interest of developmental biologists and embryologists. Cell lineage, or the study of the developmental differentiation of a blastomere, involves tracing a particular cell (blastomere) forward from its position in one of the three germ layers. Labeling individual cells within their germ layers allows for a pictorial interpretation of gastrulation. This chart or graphical representation detailing the fate of each part of an early embryo is referred to as a fate map. In essence, each fate map portrays the developmental history of each cell.
Gastrulation is an early stage in embryo development in which the blastula reorganizes into three germ layers: the ectoderm, the mesoderm, and the endoderm. Gastrulation occurs after cleavage but before neurulation and organogenesis. Ernst Haeckel coined the term; gaster, meaning stomach in Latin, is the root for gastrulation, as the gut is one of the most unique creations of the gastrula.
A node, or primitive knot, is an enlarged group of cells located in the anterior portion of the primitive streak in a developing gastrula. The node is the site where gastrulation, the formation of the three germ layers, first begins. The node determines and patterns the anterior-posterior axis of the embryo by directing the development of the chordamesoderm. The chordamesoderm is a specific type of mesoderm that will differentiate into the notochord, somites, and neural tube. Those structures will later form the vertebral column. In the chick embryo, the node is referred to as Hensen's node because of its discoverer, Viktor Hensen, who first described the node in 1875. The discovery of Hensen's node has helped to answer questions of axis formation and has allowed experimental embryologists to further investigate vertebrate embryonic development.
All sexually reproducing, multicellular diploid eukaryotes begin life as embryos. Understanding the stages of embryonic development is vital to explaining how eukaryotes form and how they are related on the tree of life. This understanding can also help answer questions related to morphology, ethics, medicine, and other pertinent fields of study. In particular, the field of comparative embryology is concerned with documenting the stages of ontogeny. In the nineteenth century, embryologist Karl Ernst von Baer famously noted that embryos of different species generally start out with very similar structure and diverge as they progress through development. This similarity allows for the construction of a series of detailed stages exhibited by a range of different organisms (though in reality embryonic development is a continuous, not staggered, process) describing the progression of events that begin with conception.
Homeobox genes are a cluster of regulatory genes that are spatially and temporally expressed during early embryological development. They are interesting from both a developmental and evolutionary perspective since their sequences are highly conserved and shared across an enormously wide array of living taxa.
The HeLa cell line was the first immortal human cell line that George Otto Gey, Margaret Gey, and Mary Kucibek first isolated from Henrietta Lacks and developed at The Johns Hopkins Hospital in Baltimore, Maryland, in 1951. An immortal human cell line is a cluster of cells that continuously multiply on their own outside of the human from which they originated. Scientists use immortal human cell lines in their research to investigate how cells function in humans. Though the HeLa cell line has contributed to many advancements in biomedical research since the twentieth century, its usage in medical research has been controversial because Lacks did not consent to having her cells used for such purposes. As of 2020, scientists continue to use the HeLa cell line for numerous scientific advancements, such as the development of vaccines and the identification of many underlying disease mechanisms.
Research in chemical induction seeks to identify the compound or compounds responsible for differentiation in a developing embryo. Soren Lovtrup compared the search for these compounds to the search for the philosopher's stone. It was based on the assumption that the differentiating agents have to be chemical substances either within cells or in the extracellular matrix. However, despite numerous efforts to understand them, the nature of these substances remained largely a mystery from the 1930s until the 1980s, when the new era of molecular induction based on molecular genetics provided a new perspective. During the period of emphasis on chemical induction, a variety of different experiments were conducted aimed at discovering the chemical nature of the inducer. In some experiments, the organizer region was killed by heat to assess the inducing ability of a dead organizer. Other experiments used natural and synthetic compounds to attempt. Although none of these experiments identified a chemical inducer with any certainty, they did discover many related properties of the developing embryo.
The syncytial theory of neural development was proposed by Victor Hensen in 1864 to explain the growth and differentiation of the nervous system. This theory has since been discredited, although it held a significant following at the turn of the twentieth century. Neural development was well studied but poorly understood, so Hensen proposed a simple model of development. The syncytial theory predicted that the nervous system was composed of many neurons with shared cytoplasm. These nerves were thought to be present in the embryo from a very early stage and were selected by the function of the target tissue. There were two competing theories to the syncytial theory. Theodor Schwann and Francis Maitland Balfour proposed the sheath cell theory, which states that nerve fibers were the product of secretions by chains of sheath cells. Santiago Ramón y Cajal and Wilhelm His proposed the outgrowth theory of fiber development for individual neurons. The most substantial evidence against the syncytial theory of neural development was produced by Ross Granville Harrison in his studies of the development of nerve fibers.