University of Bahrain

Invistigating Epigenetics Influence On

Gene Expression

SUPERVISED BY: DR. ABDULLA A.RABALRASOOL

PRESENTED AND MADE BY : FATEMA SHEHAB

M.Sc. In Biological Science

MAIN TOPICS

01 Introduction 04 Case Study

Future perspective and

02 Mechanisim 05 Challenges

03 Epigenetic Inheritance 06 Conclusion

 INTRODUCTION

Epigenetics : is a branch of genetics that studies the

heritable changes in gene expression or cellular
phenotype that occur without alterations in the DNA
makeup rather the chemical modification in the DNA
and it’s associated proteins.
 INTRODUCTION

Epigenetic mechanisms can profoundly influence gene

expression, cell differentiation, tissue development, and
disease susceptibility
Understanding epigenetic mechansim is essential to
recognize the influence of enviroment and lifestyle in health
and disease .
 EPIGENETICS MECHANISIM IN
INHERERITED DISEASES

The three fundamental classes of epigenetic mechanisms

are DNA modifications, histone modifications and non-
coding RNA.
These mechanisms are responsible for the initiation and
maintenance of epigenetic silencing and regulation of the
gene expression.
 EPIGENETICS MECHANISIM IN
INHERERITED DISEASES

DNA methylation
DNA methylation, usually happens on the C of CpG wherein a
methyl group is added to the fifth carbon on cytosine (5mC) ,
which then recruit chromatin-modifying enzymes to stop
transcription and inhibit gene expression.
 EPIGENETICS MECHANISIM IN
INHERERITED DISEASES
Modifications of histones : These modifications can affect gene
expression by altering the accessibility of DNA to the transcriptional
machinery. Common histone modifications include methylation,
acetylation, phosphorylation, and ubiquitination. These modifications can
either activate or repress gene expression, depending on the specific
modification and its location on the histone protein.
 EPIGENETICS MECHANISIM IN
INHERERITED DISEASES
Non-coding RNA molecules: such as microRNAs and long non-
coding RNAs (lncRNAs), are involved in epigenetic regulation by
targeting specific genes or chromatin-modifying enzymes.
Non-coding RNA
 EPIGENETICS INHERITANCE
Epigenetic information can be passed from one generation to
another . If an organism is exposed to an environmental factor
epigenetic changes can be induced both in the somatic cells of the
individual as well as in the germ cells of the organism.
MOLECULAR DIAGNOSIS TOOLS FOR
EPIGENETICS ANALYSIS

DNA Methylation Analysis: is the process of studying the patterns

of methyl groups added to DNA bases.

Tequniques: bisulfite conversion-based methods,pyrosequencing,

methylation-Specific PCR (MSP).
 MOLECULAR DIAGNOSIS TOOLS FOR
EPIGENETICS ANALYSIS

Histone Modification Analysis: is

the study of chemical modifications
to histone proteins, which regulates
chromatin structure and gene
expression.
Tequniques:chip-seq(Chromatin
Immunoprecipitation Sequencing ):
 MOLECULAR DIAGNOSIS TOOLS FOR
EPIGENETICS ANALYSIS

ncRNA Expression Analysis: Non-coding RNAs (ncRNAs) play important

roles in gene regulation, chromatin organization, and other cellular
processes. Analyzing ncRNA expression can provide insights into their
functions and regulatory mechanisms.

Techniques :RNA bisulfite sequencing (RNA-BS-seq),Quantitative Real-

Time PCR (qRT-PCR), Northern Blotting, RNA Sequencing (RNA-Seq),
Microarray Analysis, In Situ Hybridization (ISH)
 CASE STUDY : PRADER-WILLI SYNDROME

Prader-Willi syndrome (PWS) is a M M

complex genetic disorder that arises
Chromosome 15
from abnormalities in a specific region of
imprintng Del 15q11-q13
chromosome 15. It is characterized by a
range of physical, cognitive, and Diagnosis: genetic counseling requires a
behavioral symptoms subsequent karyotype and FISH for 15q11-q13
infancy : poor feeding , low muscle tone
Management:restrictive diet with very low-
childhood: overeating, low sex
calorie and exercise for controlling obesity.
hormones.
Growth hormone replacement can normalize
height and improve lean body mass
FUTURE PERSPECTIVE AND CHALLENGES:

Future perspectives in epigenetics hold tremendous promise for

advancing our understanding of gene regulation, development,
and disease.
As research continues to uncover epigenetic mechanisms, several
key areas are emerging as focal points for future investigation.
One area of interest is the role of epigenetics in complex diseases.
Understanding how epigenetic changes contribute to disease
development and progression could lead to the development of
novel therapeutic strategies and personalized medicine
approaches.
 CONCLUSION
In conclusion Epigenetic modification can be influenced by
environmental factors and provides hereditable but reversible
changes in gene expression without changing the DNA sequence.
Extensive studies on DNA methylation, histone modification, and
ncRNAs have contributed to a better understanding of the
pathogenesis of human diseases and it put us on the edge of
fulfilling the promise of personalized medicine and tailored therapy.
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University of Bahrain

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