(4.6) MOLECULAR BIOLOGY AND GENETICS OF HUMAN DISEASE

<p>They disrupt RNA binding and regulate germ cell maturation. (D)</p> Signup and view all the answers

<p>Combination of insulin resistance, obesity, and hypertension. (B)</p> Signup and view all the answers

<p>NF-kB signaling pathway. (D)</p> Signup and view all the answers

<p>Loss of function mutations. (B)</p> Signup and view all the answers

<p>Transforming Growth Factor Beta (TGF-β) (A), Low density lipoprotein receptor (LDLR) (C)</p> Signup and view all the answers

<p>They contribute to the formation of myofibroblasts. (B), They directly increase signaling through TGF-β. (D)</p> Signup and view all the answers

<p>It increases, promoting tissue repair and scar formation. (B)</p> Signup and view all the answers

<p>Inhibition of fibroblast transformation (C)</p> Signup and view all the answers

<p>Two quantitative trait loci (QTLs) linked to the syndrome. (D)</p> Signup and view all the answers

<p>TGF-β signaling pathway (B)</p> Signup and view all the answers

<p>Reactive oxygen species (ROS) (C)</p> Signup and view all the answers

<p>It promotes their transformation into myofibroblasts. (D)</p> Signup and view all the answers

<p>Describing the cycle of TGF-β signaling. (B)</p> Signup and view all the answers

<p>Inherited changes originate in gametogenesis. (A)</p> Signup and view all the answers

<p>Respiratory Diseases (D)</p> Signup and view all the answers

<p>They provide a loss of regulatory control. (C)</p> Signup and view all the answers

<p>They provide therapeutic targets based on their expression. (B)</p> Signup and view all the answers

<p>They indicate a lack of regulatory function in gene expression. (B)</p> Signup and view all the answers

<p>They are associated with dysregulated activity of fused products. (B)</p> Signup and view all the answers

<p>Both inherited and acquired changes contribute to respiratory diseases. (B)</p> Signup and view all the answers

<p>It enhances inflammatory response. (B)</p> Signup and view all the answers

<p>Loss of function mutations in tumor suppressor genes. (B)</p> Signup and view all the answers

<p>Germline mutations can be passed to offspring, while somatic mutations cannot. (C)</p> Signup and view all the answers

<p>Molecular biology explains the consequences of genetic variations, while genetics identifies the variations themselves. (B)</p> Signup and view all the answers

<p>Knowledge of signaling pathways allows for the identification of treatments that target specific mutated genes. (A)</p> Signup and view all the answers

<p>Genetics interact with environmental factors to influence the development and severity of asthma and COPD. (D)</p> Signup and view all the answers

<p>It enables the exploration of how genetic mutations interact with biological systems and influence disease outcomes. (B)</p> Signup and view all the answers

<p>X-linked recessive disorder (B)</p> Signup and view all the answers

<p>Severe and unusual infections (D)</p> Signup and view all the answers

<p>Loss of function (B)</p> Signup and view all the answers

<p>B lymphocytes (A)</p> Signup and view all the answers

<p>It can lead to a complete cure (B)</p> Signup and view all the answers

<p>Changes in multiple biological areas (C)</p> Signup and view all the answers

<p>Genomic instability (D)</p> Signup and view all the answers

<p>Growth without vascularity prevents large tumor development (B)</p> Signup and view all the answers

<p>Multiple cellular changes facilitate various cancer types (A)</p> Signup and view all the answers

<p>The surrounding tissue and cellular components influencing cancer (D)</p> Signup and view all the answers

<p>It must occur in germline cells. (A)</p> Signup and view all the answers

<p>It creates a supportive environment for continuous replication. (D)</p> Signup and view all the answers

<p>Epigenetics can modify gene expression without altering DNA sequences. (A)</p> Signup and view all the answers

<p>They contribute to cancer alongside other factors. (A)</p> Signup and view all the answers

<p>DNA replication errors. (A)</p> Signup and view all the answers

Inherited predisposition to metabolic syndrome is likely influenced by multiple genes.

Specific locations on chromosomes associated with metabolic syndrome characteristics.

Genes potentially linked to inherited predisposition for metabolic syndrome.

Low-density lipoprotein receptor gene, potentially associated with metabolic syndrome.

Transforming Growth Factor Beta, is linked to cardiovascular diseases and tissue repair.

Reactive oxygen species, play a role in cardiovascular disease development and progression.

Death of heart muscle cells, potentially related to TGF-β.

Heart attack, possibly linked to TGF-β signaling.

Healing process after injury, often influenced by TGF-β signaling.

COX-2 is a key enzyme in prostaglandin production, triggered by inflammation. It plays a role in the development and progression of asthma and COPD.

Mutations in COX-2 can cause inherited deficiencies with various health problems, including mitochondrial disorders, stroke risk, and neurodegenerative conditions.

COX-2 is involved in brain inflammation, and synaptic activity (connections in brain), potentially playing a role in Alzheimer's disease.

Microdeletions in the Y chromosome's Azoospermia Region (AZF; AZFa, AZFb, AZFc) are a common cause of male infertility, impacting spermatogenesis.

A key gene, crucial for spermatogenesis (sperm production), and its mutations can lead to infertility.

A group of risk factors (insulin resistance, obesity, high blood pressure, bad cholesterol) that increases the chances of heart disease and diabetes.

Cells don't respond properly to insulin, leading to high blood sugar and related health problems.

Focuses on interactions and cellular behaviors that cause disease, often involving non-heritable genetic changes.

Focuses on inherited changes that can increase the risk for diseases in future generations, tracing back to the germline.

An increase in molecular activity, potentially caused by a lack of regulation or a simple increase in the process.

A decrease in molecular activity, often because a key regulatory function is lost.

Normal cell growth gene, when mutated converts to oncogene.

Mutated protooncogene, causes increased cell growth.

Normal gene that prevents cancer by controlling cell growth

Genetic material from two separate genes fuses together to form a new gene that creates a new or dysregulated protein.

Both asthma and COPD involve chronic inflammation of respiratory system which is caused by a combination of genetic and environmental factors, with microRNAs potentially playing a therapeutic role.

Somatic changes occur in the body and are not passed on to offspring; germline changes occur in reproductive cells and can be inherited.

Genetics studies how genes are inherited and their role in disease; Molecular biology explores the mechanisms and interactions within cells that lead to disease.

These are disorders or diseases that are passed down from parents to offspring due to altered genes.

These diseases are caused by a combination of both genetic and environmental factors.

The effects of a particular genetic change can vary greatly among individuals, with some experiencing mild effects while others experience more severe outcomes.

A genetic condition caused by a mutation on the X chromosome, passed down through families, affecting males more than females.

An intracellular tyrosine kinase involved in important signaling pathways, specifically in the immune system, encoded by the BTK gene.

Tyrosine residues are crucial for the functioning of tyrosine kinases, as they serve as sites for phosphorylation, triggering downstream signaling events.

These disorders often present with three main characteristics: severe and unusual infections, autoimmune/autoinflammatory diseases, and a predisposition to malignancies.

Cancer arises from mutations in a cell's DNA, causing uncontrolled cell growth and division.

Cancer development is influenced by the interactions between cells in a tissue and their surroundings.

A mutation must occur in the germline cells (sperm and egg) to be passed on to offspring.

Cell replication is the primary source of mutations because errors can occur during DNA copying.

Cells interact with their environment, including other cells, tissues, and substances, influencing their growth and behavior.

A set of characteristics that define a tumor, including uncontrolled growth, evasion of immune responses, and invasion of surrounding tissues.

Developing cancer requires more than just one mutated gene. Multiple genetic changes are needed for a cell to become fully cancerous.

Blood vessels supply tumors with nutrients and oxygen, allowing them to grow larger and more invasive.

Benign tumors are localized and do not spread, while malignant tumors can invade surrounding tissues and spread to other parts of the body.

Changes in a cell's DNA, such as deletions, additions, or rearrangements, can contribute to cancer development.