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Processes and the Genetic Environment
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• Describe cellular processes and alterations within cellular processes
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❖ The eight specialized cellular functions are movement,
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conductivity,metabolicabsorption,secretion,excretion,
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respiration, reproduction, and communication.
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❖ The chief functions of the nucleus are cell division and
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control of genetic information.
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❖ Importantly, the ER is responsible for protein folding and k k k k k k k k
sensing cell stress.
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❖ Lysosomes are saclike structures that originate from the k k k k k k k
Golgi complex and contain digestive enzymes. These
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enzymes are responsible for digesting most cellular
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substances completely to their basic components, such as
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amino acids, fatty acids, and carbohydrates. A newly
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understood role of lysosomes is nutrient-dependent signal
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transduction. The signaling function cooperates with the
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known degradative role to mediate basic cell functions, such
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as nutrient sensing, metabolic adaptation, and quality
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control of proteins and organelles. 8. Four pathways of
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degradation in lysosomes include endocytosis,
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phagocytosis, macropinocytosis, and autophagy.
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❖ . Mitochondria are found in great numbers in most cells and
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are responsible for cellular respiration and energy
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production. The enzymes of the respiratory chain
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(electrontransport chain), found in the inner membrane of
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the mitochondria, generate most of the cell’s ATP.
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❖ The chemical tasks of maintaining essential cellular
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functions are referred to as cellular metabolism. Anabolism
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is the energy-using process of metabolism, whereas
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catabolism is the energy-releasing process. 2. ATP
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functions asan energy-transferring molecule. Energy is
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stored by molecules of carbohydrate, lipid, and protein,
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which, when catabolized, transfer energy to ATP. 3.
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Oxidative phosphorylation occurs in the mitochondria and is
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the mechanism by which the energy produced from
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carbohydrates, fats, and proteins is transferred to ATP.
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, ❖
• What is the impact of the genetic environment on disease?
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❖ Family members share genes and a common environment;
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therefore, resemblance in traits, such as high blood pressure,
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reflects both genetic and environmental factors (nature and
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nurture, respectively).
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❖ A genetic predisposition may interact with an environmental-
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lifestyle factor to increase the risk of disease; this is called a
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gene-environment interaction.
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❖ The complete human genome sequence will facilitate gene
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identification, diagnosis, and disease treatment.
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❖ An individual’s genotype is the person’s genetic makeup, and the
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phenotype reflects the interaction of genotype and
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environment.
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❖ Environmental factors, such as diet and exposure to certain k k k k k k k k
chemicals, may cause epigenetic modifications.
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❖
• Explain how healthy cell activity contributes to good health and how its
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breakdown in cellular behavior and alterations to cells lead to health
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issue.
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• What are the roles genetics plays in disease processes?
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❖ Changes in many genes, each with a small effect, may underlie k k k k k k k k k k
susceptibility to many common diseases, including cancer,
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obesity, diabetes, heart disease, and mental illness. In people with
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a genetic predisposition, the risk of disease can depend on multiple
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factors in addition to an identified genetic change
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• What is the relationship of how cells are involved in disease
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processes?
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❖ All diseases are disturbances at the cellular level (Rudolph
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Virchow, 1858) To treat disease, we must understand its cause. To k k k k k k k k k k
understand the cause of a disease, we must understand the
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alterations that occur at the level of individual cells.
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❖ Systemic manifestations of cellular injury include fever, k k k k k k
leukocytosis, increased heart rate, pain, and serum elevations of k k k k k k k k
enzymes in the plasma.
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❖ Manifestations of cellular injury include accumulations of water, k k k k k k k
lipids, carbohydrates, glycogen, proteins, pigments,
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hemosiderin, bilirubin, calcium, and urate.
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,Altered Physiology
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• Evaluate cellular processes and alterations within cellular processes
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❖ Cellular processes, such as transcription, DNA replication, k k k k k k
and DNA repair, are regulated by an intimate and self-
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reinforcing crosstalk and interdependence between histone-
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modifying complexes and other histone-modifying activities,
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such as acetylation, phosphorylation, and methylation.
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❖ Cellular processes are mediated through the complex action of k k k k k k k k
several biological molecules through biochemical or biophysical
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interactions. Comprehensive understanding of the network will
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hence help to better understand the molecular mechanism
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underlying human diseases. Proteins ―A‖ and ―B‖ serve as hub
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proteins (schematic 1). An alteration (mutation) that removes one
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of the hub proteins (schematic 2) could lead to a significantly more
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severe outcome compared to an alteration that affects only a single
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edge (schematic 3), which could explain how different alteration in
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the same gene could lead to a different disease phenotype.
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• Analyze alterations in the immune system that result in disease
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processes
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❖ Autoimmune diseases originate from the coincidence of an k k k k k k k
initiating event in a genetically predisposed individual leading to ank k k k k k k k k
autoimmune mechanism that affects specific target tissues or
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cells. Central tolerance develops during the embryonic period.
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Peripheral tolerance is maintained in secondary lymphoid organs
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by regulatory T lymphocytes or antigen- presenting dendritic cells.
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❖ Inappropriate immune responses are misdirected responses k k k k k
against the host’s own tissues (autoimmunity); directed responses
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against beneficial foreign tissues, such as transfusions or
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transplants (alloimmunity); exaggerated responses against
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environmental antigens (allergy); or insufficient responses to
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protect the host (immune deficiency).
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❖
• Identify racial/ethnic variables that may impact physiological
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functioning
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, ❖ lower education levels, socioeconomic status, lack of health
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insurance, inadequate housing, and living near environmental
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hazards.
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• What is the impact of patient characteristics on disorders and
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altered physiology?
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• What is the association of genes in the development of disease?
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❖ The more strongly inherited forms of complex disorders
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generally have an earlier age of onset (breast cancer,
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Alzheimer’s disease, heart disease)
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o These represents subsets of cases in which there is k k k k k k k k
single-gene inheritance k k
o Laterality, is a component, the bilateral forms are more k k k k k k k k
likely to cluster strongly in families (breast cancer, CL/P)
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❖ Sex-specific threshold model fits some of the complex disorders k k k k k k k k
(pyloric stenosis, CL/P, autism, heart disease)
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❖ If it fails to fit others (type 1 diabetes)
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• What is the process of immunosuppression and the effect it has on
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body systems?
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❖ Corticosteroids not only intervene at many points of the immune k k k k k k k k k
response, such as preventing lymphocyte recirculation and
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generation of antibody-producing and cytotoxic effector cells, but
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they also possess a remarkable anti-inflammatory potency.
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They inhibit neutrophil adherence to the vascular endothelium
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at an inflammatory site and suppress monocytic functions such
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as microbicidal activity, monocyte response to lymphokines,
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and release of monokines.
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❖ An immunocompromised individual may particularly be
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vulnerable to opportunistic infections, in addition to
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normal infections that could affect anyone.[3] It also
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decreases cancer immunosurveillance, in which the immune k k k k k k
system scans the body's cells and kills neoplastic ones.
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Concepts of Cardiovascular and Respiratory Disorders
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• Common diseases and disorders that impact the Cardiovascular
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system
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❖ Diseases of the Veins k k k