Genetic Variants in Autophagy and Aging

Questions and Answers

What is a single nucleotide polymorphism (SNP)?

A type of deletion affecting entire genes.

A variation involving an entire chromosome.

A change in a single base pair in the genome. (correct)

A mutation that affects multiple base pairs.

What can SNPs account for among individuals?

Complete genetic homogeneity.

Identical DNA sequences.

Variations in disease susceptibility. (correct)

Inability to inherit traits.

What effect does a frameshift mutation have on protein coding?

It has no impact on the amino acid sequence.

It alters the entire reading frame of the gene. (correct)

It eliminates the gene's transcription.

It enhances protein synthesis efficiency.

How many single nucleotide polymorphisms (SNPs) are estimated to be in the human genome?

Roughly 10 million. Signup and view all the answers

What is an insertion or deletion in the context of genetics?

A frameshift mutation that alters the protein structure. Signup and view all the answers

What is the primary consequence of SNPs that do not lead to observable differences?

They can affect drug responses without any phenotypic change. Signup and view all the answers

Which of the following describes the reading frame in genetics?

It refers to how nucleotides are grouped into codons. Signup and view all the answers

What defines a frameshift mutation?

A mutation caused by insertion or deletion altering the codon arrangement. Signup and view all the answers

How does genetic variation between individuals impact inheritance?

It provides insight into relatedness among individuals. Signup and view all the answers

What can be a potential outcome of a frameshift mutation?

Production of nonfunctional proteins. Signup and view all the answers

Study Notes

Eötvös Loránd University (ELTE)

Master thesis pursued by Izzeddin Halawa in Biology, focusing on Molecular Genetics, Cell and Developmental Biology.

Study Focus

Investigation of genetic variants (SNPs and indels) in autophagy and aging-related genes in dogs through bioinformatic methods.

Autophagy

Autophagy is a cellular process that degrades and recycles damaged components.
It consists of three major types:
- Macroautophagy
- Microautophagy
- Chaperon-mediated autophagy.

Mechanism and Regulation

Initiation begins at the endoplasmic reticulum, forming a pre-autophagosome requiring proteins like ULK1 and ATG13.
Proteins involved in further steps include:
- VPS34, VPS15, and Beclin 1, which facilitate the production of PIP3.
- WIPI proteins and cargo receptors like P62 and NBR1 recruit substrates.
- LC3-1 and the ATG protein complex (ATG5, ATG12, ATG16) are critical for targeting substrates for degradation.
Mature autophagosomes fuse with lysosomes to degrade contents through acidic proteases like cathepsin B.

Autophagy and Aging

Aging leads to cellular integrity decline, characterized by the accumulation of faulty macromolecules.
Research suggests that interventions in conserved signaling pathways might modulate aging processes and offer therapeutic potential.

Health Benefits of Autophagy

Autophagy reduces inflammation, a contributor to various chronic diseases.
Enhances immune system function and supports recovery from stress conditions.
Contributes to skin health, reduces wrinkles, and helps maintain brain function, potentially protecting against diseases like Alzheimer's.

Genetic Variants

Genetic variants, including SNPs and indels, can influence disease susceptibility and responses to medications.
SNPs represent single base substitutions in the DNA sequence, with around 10 million present in the human genome.
Indels refer to insertions or deletions that can cause frameshift mutations, altering the protein's amino acid sequence significantly.

Types of Genetic Variants

Single Nucleotide Polymorphism (SNP)
- Variation at a single base pair that accounts for many genetic differences among individuals.
Insertions and Deletions (Indels)
- Cause frameshift mutations, disrupting coding sequences, leading to potentially nonfunctional proteins due to incorrect amino acid sequences.

Description

This quiz explores the research on genetic variants, specifically SNPs and indels, related to autophagy and aging in dogs. Utilizing bioinformatics methods, the focus is on molecular genetics, cell, and developmental biology. It is based on a master thesis from Eötvös Loránd University.