Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MOL3100 Introduction to Molecular Medicine > ex22 > Flashcards

ex22 Flashcards

1
Q

Robertsonian Translocation

A

A chromosomal rearrangement involving fusion of two acrocentric chromosomes (13, 14, 15, 21, 22) with loss of short arm material, typically resulting in phenotypically normal individuals.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Histone Acetylation

A

A modification where histone acetyltransferases (HATs) acetylate lysine residues on histone tails, reducing positive charge and loosening DNA-histone interactions to promote transcription.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Autosomal Dominant Inheritance

A

A genetic inheritance pattern where one mutated copy of a gene is sufficient to cause disease, affecting both males and females equally.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

LDL-Receptor Mutation

A

A mutation in the LDL-receptor gene associated with familial hypercholesterolemia, where one inactivating mutation is sufficient to impair cholesterol clearance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Aptamers

A

Short nucleic acid sequences that bind specific ligands with high affinity through unique 3D structures, used in therapeutics and diagnostics.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

TET Enzymes

A

Ten-Eleven Translocase enzymes that catalyze the oxidation of 5-methylcytosine to 5-hydroxymethylcytosine, facilitating active DNA demethylation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

BLAST Tool

A

A bioinformatics tool used for sequence alignment to identify homologous regions, predict protein functions, and model 3D structures.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Scoring Matrices

A

Matrices used in sequence alignment to score amino acid substitutions based on evolutionary conservation, with higher scores representing greater similarity.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Totipotent Cells

A

Stem cells with the ability to differentiate into all cell types, including embryonic and extraembryonic tissues, such as those formed by zygotes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Beta-Cell Mass Estimation

A

Measured by plasma C-peptide levels, which reflect endogenous insulin production and are unaffected by exogenous insulin therapy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

ncRNAs in Disease

A

Non-coding RNAs (e.g., miRNAs and lncRNAs) that regulate gene expression and harbor many disease-associated genetic variants in non-coding regions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Seed Region of miRNA

A

A critical sequence in the mature microRNA that binds target mRNAs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

TET Enzyme Reaction

A

Catalyzes the oxidation of 5-methylcytosine to 5-hydroxymethylcytosine, critical for active DNA demethylation and epigenetic regulation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Protein Sequence Alignment

A

Used to infer homology, predict functional domains, and create 3D models of protein structures for therapeutic and research purposes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

CpG Islands

A

Regions with high CpG density, usually unmethylated and associated with promoters of actively transcribed genes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Cyclin-Dependent Kinase Inhibitors

A

Proteins like p21 and p27 that regulate the cell cycle, often downregulated in cancers to allow uncontrolled proliferation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Histone N-terminal Tails

A

Regions subject to post-translational modifications such as acetylation, methylation, and phosphorylation, regulating chromatin structure and gene expression.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Hypercholesterolemia

A

A condition often caused by mutations in the LDL-receptor gene, leading to impaired clearance of LDL cholesterol and elevated plasma cholesterol levels.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

C-peptide

A

A biomarker for beta-cell function, providing an accurate measure of endogenous insulin production in patients with diabetes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Epigenetic Modifications

A

Chemical changes to DNA or histones, such as methylation or acetylation, that regulate gene expression without altering the DNA sequence.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

DNA Demethylation

A

The process of removing methyl groups from 5-methylcytosine, often mediated by TET enzymes, allowing genes to be reactivated.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Unbalanced Robertsonian Translocation

A

A chromosomal rearrangement where genetic material is lost, typically involving acrocentric chromosomes, potentially leading to phenotypic abnormalities.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Histone Acetyltransferases

A

Enzymes that acetylate lysine residues on histones, reducing DNA-histone affinity and promoting gene expression.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Non-Coding RNAs

A

Functional RNA molecules, such as miRNAs and lncRNAs, that regulate gene expression without coding for proteins.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

CpG Methylation

A

A common epigenetic modification where cytosines in CpG dinucleotides are methylated, often silencing gene expression.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

BLAST Alignment Tool

A

Bioinformatics software for comparing nucleotide or protein sequences to identify homologs or functional similarities.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Seed Region of miRNA

A

A critical region in microRNAs that binds target mRNAs, with mutations here having significant regulatory impacts.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Cyclins

A

Proteins that regulate cell cycle progression, often overexpressed in cancers to drive uncontrolled cell division.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Histone Modifications

A

Post-translational changes, such as acetylation and methylation, that influence chromatin accessibility and transcription.

30
Q

Totipotency

A

The ability of a single cell, like a zygote, to differentiate into all cell types, including both embryonic and extraembryonic tissues.

31
Q

Protein Scoring Matrices

A

Matrices like PAM and BLOSUM used in sequence alignment to score the likelihood of amino acid substitutions based on evolutionary conservation.

32
Q

Aptamer Function

A

Bind specific targets like proteins or small molecules with high specificity, used in diagnostics and therapeutics.

33
Q

Cytoplasmic lncRNAs

A

Non-coding RNAs that often act as sponges for miRNAs, regulating their activity and downstream effects.

34
Q

Autosomal Inheritance

A

A pattern of inheritance where mutations on non-sex chromosomes (autosomes) can affect both males and females equally.

35
Q

Beta-Cell Function

A

Assessed by measuring C-peptide levels, reflecting endogenous insulin production and pancreatic activity.

36
Q

Epigenetic Regulation

A

Control of gene expression through mechanisms like DNA methylation and histone modification, without altering the DNA sequence.

37
Q

DNA Repair Mechanisms

A

Systems like base excision repair and nucleotide excision repair that correct DNA damage to maintain genomic stability.

38
Q

miRNA Promoter SNPs

A

Mutations in the promoter regions of microRNAs can alter their expression levels and affect downstream gene regulation.

39
Q

PCNA Function

A

A sliding clamp that coordinates DNA polymerase and other replication machinery to ensure efficient DNA synthesis.

40
Q

Apoptosis Regulation

A

Programmed cell death regulated by caspases and factors like BCL-2, critical for development and immune responses.

41
Q

Hypercholesterolemia Genetics

A

Often caused by mutations in LDL-receptor genes, leading to impaired cholesterol uptake and elevated blood lipid levels.

42
Q

Histone Methylation

A

A modification that can activate or repress transcription, depending on the site and context of methylation on histone tails.

43
Q

Immune Checkpoints

A

Molecules like PD-1 and CTLA-4 that regulate immune responses, often exploited by cancers to evade immune detection.

44
Q

Cytokine Storm

A

A hyperactive immune response characterized by excessive cytokine release, sometimes triggered by immune therapies.

45
Q

TET Enzyme Oxidation

A

Converts 5-methylcytosine to 5-hydroxymethylcytosine, initiating DNA demethylation and epigenetic reprogramming.

46
Q

RNA Interference

A

A biological process where small RNAs, like siRNAs or miRNAs, silence gene expression by degrading target mRNAs or blocking translation.

47
Q

DNA Methylation in Somatic Cells

A

Approximately 60-80% of CpG sites are methylated, primarily in repetitive and non-coding regions, maintaining genomic stability.

48
Q

Cyclin-Dependent Kinases (CDKs)

A

Enzymes that regulate the cell cycle, often overactive in cancer due to dysregulated cyclins or loss of CDK inhibitors.

49
Q

C-peptide Levels

A

A reliable indicator of endogenous insulin production, used to estimate beta-cell mass in diabetes patients.

50
Q

ncRNA Variants

A

Many disease-associated genetic variants are found in non-coding regions, affecting the function of miRNAs and lncRNAs.

51
Q

Epigenetic Plasticity

A

The ability of cells to modify their gene expression through epigenetic changes like DNA methylation or histone acetylation in response to environmental stimuli.

52
Q

MicroRNA Seed Mutations

A

Mutations in the seed region of miRNAs can disrupt their ability to bind target mRNAs, leading to dysregulated gene expression.

53
Q

CpG Island Methylation

A

Regions of high CpG density in promoters, typically unmethylated in active genes but hypermethylated in silenced genes.

54
Q

Histone Deacetylases (HDACs)

A

Enzymes that remove acetyl groups from histones, increasing chromatin compaction and repressing gene transcription.

55
Q

Apoptotic Caspases

A

Proteases activated during apoptosis through dimerization and auto-proteolytic cleavage, leading to cell death.

56
Q

Germline Mutations

A

Inherited mutations present in all cells, often causing hereditary diseases like familial hypercholesterolemia.

57
Q

Stem Cell Differentiation

A

The process where stem cells specialize into specific cell types, such as neurons or muscle cells, through signaling pathways and transcription factors.

58
Q

Topoisomerase Inhibitors

A

Drugs like irinotecan and doxorubicin that target topoisomerases to prevent DNA unwinding, causing DNA damage and apoptosis in cancer cells.

59
Q

G1 Phase

A

The longest phase of the cell cycle, where cells grow and prepare for DNA replication, typically containing the highest number of cells in a population.

60
Q

Ischemic Stroke

A

A stroke caused by a blood clot blocking an artery, treated with thrombolysis (e.g., tPA) or mechanical thrombectomy to restore blood flow.

61
Q

Hemorrhagic Stroke

A

A stroke caused by bleeding in the brain, treated by controlling blood pressure and surgical interventions like aneurysm clipping.

62
Q

Circle of Willis

A

An arterial network at the base of the brain that ensures collateral blood flow, protecting against ischemic injury during vessel blockages.

63
Q

DNA Repair

A

Mechanisms such as base excision repair and nucleotide excision repair that maintain genome integrity by correcting DNA lesions.

64
Q

Endogenous DNA Damage

A

Most DNA damage arises from internal sources like reactive oxygen species (ROS) and replication errors, rather than external factors.

65
Q

Gene Regulation by lncRNAs

A

Long non-coding RNAs modulate gene expression by interacting with chromatin, transcription factors, or sponging miRNAs.

66
Q

DPP4 Inhibitors

A

Drugs that prolong the activity of GLP-1, enhancing insulin secretion and improving glycemic control in type 2 diabetes.

67
Q

Roux-en-Y Gastric Bypass

A

A surgical procedure for weight loss that also induces type 2 diabetes remission by altering gut hormones like GLP-1 and PYY.

68
Q

Histone Methylation Marks

A

Methylation at specific histone residues can activate (e.g., H3K4me3) or repress (e.g., H3K27me3) transcription, depending on the context.

69
Q

miRNA Function

A

MicroRNAs regulate gene expression post-transcriptionally by binding to complementary mRNA sequences, leading to degradation or translational inhibition.

70
Q

Aptamer Technology

A

Synthetic nucleic acids used as high-affinity ligands for proteins, enabling applications in drug development, diagnostics, and molecular research.

MOL3100 Introduction to Molecular Medicine (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions