Epigenetics Overview

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Questions and Answers

What does epigenetics primarily study?

Causal interactions between genes and their products (correct)

Only somatic changes in gene activity

Heritable changes in DNA sequence

The structure of the genome

What distinguishes somatic changes from germline changes in epigenetics?

Somatic changes affect only specific cells, while germline changes affect the entire organism. (correct)

Germline changes impact the overall health while somatic do not.

Germline changes are reversible, while somatic changes are permanent.

Somatic changes are inherited, while germline changes are not.

How do epigenetic changes influence human health?

They can lead to long-term alterations in gene expression without changing the DNA sequence. (correct)

They are solely determined by genetic makeup.

They only affect physical traits.

They play no significant role in health or disease.

Which statement about epigenetics is true?

It involves stable alterations in transcriptional potential. Signup and view all the answers

What is the consequence of pathogenic variants or deletions in the EHMT1 gene?

Kleefstra syndrome Signup and view all the answers

What condition is associated with pathogenic variants in the MECP2 gene?

Rett syndrome Signup and view all the answers

Which of the following symptoms is NOT associated with Kleefstra syndrome?

Gait abnormalities Signup and view all the answers

What type of alterations result from the disruption of Writers, Readers, and Erasers?

Epigenetic alterations Signup and view all the answers

Which syndrome is characterized by symptoms including enlarged organs and an increased risk of tumors?

Beckwith Wiedemann syndrome Signup and view all the answers

At what age do children typically begin to show regression in symptoms of Rett syndrome?

Around age 2 Signup and view all the answers

Which of the following conditions is characterized by severe apathy and features resembling catatonia?

Kleefstra syndrome Signup and view all the answers

What type of gene expression is associated with Beckwith Wiedemann syndrome?

Imprinting with monoallelic expression Signup and view all the answers

What is the primary focus of Developmental Origins of Health and Disease (DOHaD)?

Influence of early life exposures on later health Signup and view all the answers

Which of the following health issues has been linked to exposure during the Dutch Famine?

Asthma Signup and view all the answers

What significant change was observed in the methylation profile of individuals conceived during the Dutch famine?

Decreased methylation of the IGF2 gene Signup and view all the answers

What type of health problems do the effects of early life exposures potentially carry over into?

Behavioral disorders and psychological issues Signup and view all the answers

How did the health outcomes of children conceived during the Dutch Famine manifest in adulthood?

They showed persistent health issues into adulthood Signup and view all the answers

What is a significant finding related to high licking rat mothers in epigenetic studies?

Differences in promoter region methylation Signup and view all the answers

Which of the following diseases has not been clearly linked to the Dutch Famine exposure?

Type 1 diabetes Signup and view all the answers

What aspect of health does the trauma experienced during events like famine illustrate within DOHaD?

The biological impact of environmental stresses Signup and view all the answers

Which syndrome is associated with genetic imprinting as outlined in the given studies?

Beckwith-Wiedemann Syndrome Signup and view all the answers

Which of the following best describes a significant focus of cancer epigenomics?

DNA methylomes and histone modifications Signup and view all the answers

What is a key implication of epigenetic inheritance in allergic diseases?

It involves both transgenerational and intergenerational effects. Signup and view all the answers

Which of the following aspects of epigenetics is linked to addiction according to the cited literature?

Environmental influences Signup and view all the answers

What is a consequence of the research findings on cancer epigenomics?

Development of epigenetic therapy strategies. Signup and view all the answers

What happens when both genes associated with IGF2 are turned on during embryo development?

Excessive growth Signup and view all the answers

Which of the following is NOT a characteristic of Russell Silver Syndrome?

Obesity Signup and view all the answers

What is the primary cause of Prader-Willi Syndrome?

Deletion from the gene inherited from the father Signup and view all the answers

In which syndrome does a deletion on chromosome 15 lead to floppy baby syndrome initially?

Prader-Willi Syndrome Signup and view all the answers

What effect does silencing IGF2 on both copies have on an individual's growth?

Slower and smaller growth Signup and view all the answers

Angelman Syndrome is characterized by which of the following traits?

Developmental delay Signup and view all the answers

What potential future application is suggested for epigenetics?

Targeted drug therapies Signup and view all the answers

Clinodactyly is a feature seen in which imprinting disorder?

Russell Silver Syndrome Signup and view all the answers

Study Notes

Epigenetics

The study of how gene expression is altered without changing the DNA sequence.
These modifications can be inherited by daughter cells or even future generations.

Epigenetic Changes

Involve modifications to DNA or histones, influencing how tightly DNA is packed around histones.
These changes can be influenced by environmental factors and lifestyle choices.

Environmental Factors

Dutch Famine: Children conceived during the famine had increased risks of obesity, diabetes, and other health issues later in life. This was linked to altered DNA methylation patterns.
Maternal Care in Rats: Rat pups raised by mothers who lick and groom them extensively have different DNA methylation patterns in the brain, leading to reduced stress responses.

Epigenetic Mechanisms

DNA Methylation: The addition of a methyl (CH3) group to cytosine bases in DNA. This can silence genes.
Histone Modification: Chemical modifications to histone proteins, such as acetylation or methylation, can influence how tightly DNA is packed around them, altering gene expression.

Epigenetic Writers, Readers, and Erasers

Writers: Enzymes that add epigenetic modifications. Examples include EHMT1, which methylates histones.
Readers: Proteins that recognize specific epigenetic marks. MECP2 is a reader that binds to methylated cytosine.
Erasers: Enzymes that remove epigenetic modifications.

Epigenetic Disorders

Kleefstra Syndrome: Caused by pathogenic variants or deletions in EHMT1, a histone methyltransferase. This leads to intellectual disability, distinct facial features, and other health issues.
Rett Syndrome: Caused by pathogenic variants in MECP2, a reader of methylated DNA. It leads to developmental regression, loss of hand skills, and other neurological problems.
Imprinting Disorders: Occur when genes are expressed from one parent but silenced from the other. Examples include Beckwith-Wiedemann Syndrome, Russell-Silver Syndrome, Prader-Willi Syndrome, and Angelman Syndrome.

Potential Future

Epigenetic mechanisms can be targeted for drug development.

Key Points

Epigenetics plays a crucial role in health and disease.
Environmental factors, lifestyle choices, and even inherited genetic variations can influence epigenetic marks.
Epigenetic changes can be either beneficial or detrimental to health.

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Description

Explore the fascinating world of epigenetics, where gene expression is altered without changing the DNA sequence. This quiz delves into epigenetic changes, mechanisms, and the impact of environmental factors on gene expression. Understand how these modifications can have lasting effects across generations.