Genetic disorders

Varuni Patil
4TH BAMS
Genetic disorders
It is an illness caused by abnormality in the genome as a result of
interaction between an individual and environmental factors.Genetic
disorders can affect a single gene, multiple genes, or even entire
chromosomes.

There are two main types of genetic disorders:

• Inherited genetic disorders: Passed down from one or both
parents. Examples include cystic fibrosis, sickle cell anemia, and
Huntington's disease.
• Acquired genetic disorders: Result from mutations that occur
during a person’s lifetime, which may be influenced by
environmental factors, lifestyle, or random changes in the DNA.
Examples cancers.
Basics in genetics
• Chromosomes: A chromosome is a
long thread-like structure composed
of DNA (deoxyribonucleic acid) and
proteins, found in the nucleus of
most living cells.
• Genes: Genes are segments of DNA
that carry the instructions for making
proteins, which are essential for the
structure, function, and regulation of
the body's cells, tissues, and organs.
• Genes are also in pairs
Dominant gene
Recessive gene
Classification of genetic
disorders
1. Single gene disorder
2. Chromosomal Disorders
3. Mitochondrial Disorders
4. Multifactorial (Complex) Disorders
Monogenic Disorders (Single-Gene Disorders)
These disorders are caused by mutations in a single gene. The
mutation can be inherited in different ways, depending on the type of
gene involved.

1. Autosomal dominant
2. Autosomal recessive
3. X linked dominant
4. X linked recessive
5. Y linked
1. Autosomal Dominant:
Only one copy of the
mutated gene (from
either parent) is required
to cause the disorder.
Affected individuals have
a 50% chance of passing
the mutation on to each
offspring
Examples: Huntington’s
disease, Marfan syndrome,
Achondroplasia
 • Autosomal Recessive:
Both copies of the gene
(one from each parent)
must have mutations
for the disorder to be
expressed. Carriers
(individuals with one
mutated gene) typically
do not show symptoms.
Examples: Cystic fibrosis,
Sickle cell anemia, Tay-
Sachs disease.
 • X-linked dominant is a
type of inheritance pattern
for genetic disorders that
are caused by mutations in
genes located on the X
chromosome. only one
copy of the mutated gene
is enough to cause the
disorder.
examples: Rett Syndrome
Vit D resistant rickets,
Incontinentia Pigmenti:
 • X-linked recessive genetic
disorders are caused by
mutations in genes located on
the X chromosome. In these
disorders a person needs two
copies of the mutated gene to
express the disorder (one on
each X chromosome for
females), but only one mutated
gene is needed for males to be
affected (since males have only
one X chromosome).
Examples: Hemophilia.
Duchenne Muscular Dystrophy
(DMD). Red-Green Color
Blindness
 • Y-linked disorders are a
rare class of genetic
conditions caused by
mutations in genes located
on the Y chromosome. Y-
linked disorders are
inherited only through the
paternal line.
Example:Hypertrichosis
chromosome.
(Excessive Hair Growth):
Y-Chromosome Infertility:
 1. Chromosomal Disorders

These disorders are • Examples: Down

caused by changes in the syndrome (Trisomy 21,
number or structure of an extra chromosome
chromosomes. The 21), Turner syndrome
(Monosomy X, one
abnormalities can involve missing X chromosome
whole chromosome. in females), Klinefelter
syndrome (XXY, an
extra X chromosome in
males)es or parts of
chromosomes
3. Mitochondrial Disorders
• These are caused by • Examples: Leber’s
mutations in the hereditary optic
mitochondrial DNA.
neuropathy, MELAS
Mitochondria are the
energy-producing syndrome
structures in cells, and (mitochondrial
since they have their own encephalomyopathy
DNA, disorders can arise )
from mutations in this
genetic material.
Mitochondrial DNA is
inherited only from the
mother.
4. Multifactorial (Complex) Disorders

• These disorders are • Examples: Heart

caused by a combination disease, Diabetes,
of genetic mutations and
Cancer, Alzheimer’s
environmental factors.
They don’t follow simple
disease,
inheritance patterns like Schizophrenia.
single-gene disorders,
and instead, multiple
genes interact with
environmental factors to
increase the risk of
developing the disorder.
Management
1. Pharmacogenomics is the study of how an individual's genetic
makeup influences their response to drugs. It combines
pharmacology (the study of drugs) and genomics (the study of
genes) to better understand how genetic variations affect the
efficacy and safety of medications. By identifying genetic factors
that influence drug metabolism, effectiveness, and toxicity,
pharmacogenomics aims to personalize medical treatment,
optimizing drug choices and dosages for each individual based on
their genetic profile.
• Cytochrome P450 enzymes (CYP450 family) are the most
common enzymes involved in drug metabolism, and genetic
variations in these enzymes can greatly influence drug responses.
For example, people with certain genetic variations in the
CYP2C9 gene might need a lower dose of warfarin (a blood
thinner) to prevent bleeding complications.
2. Gene therapy is a cutting-edge medical
treatment that involves altering or
replacing a person’s genetic material to
treat or prevent disease. This approach
can address the underlying genetic causes
of diseases rather than just managing
symptoms.
• Viral Vectors: Modified viruses are
used to carry the therapeutic gene into
the patient's cells. Viruses are efficient
at entering cells, so they can be
engineered to deliver the desired gene
without causing disease.
3. A stem cell transplant (also
known as hematopoietic stem cell
transplant or bone marrow
transplant) is a medical procedure
that involves replacing damaged
or diseased bone marrow or stem
cells with healthy stem cells. Stem
cell transplants are used to treat a
variety of diseases, including
certain types of cancer (such as
leukemia), blood disorders, and
immune system diseases.
Classification Type Examples
Single gene 1. Autosomal Huntington disease, achondroplasia,
disorder dominant marfans syndrome, PKD
2. Autosomal Cystic fibrosis, tay-sachs disease,
recessive spinal muscular dystrophy, sickle cell
anemia
3. X linked Vit-D resistant rickets, Rett
dominant syndrome, incontinentia pigment
4. X linked Hemophilia A, Duchenne muscular
recessive dystrophy, color blindness

5. Y linked Male infertility, hypertrichosis

pinnae
Mitochondrial Lebers hereditary optic neuropathy,
inherited disorders MELAS
Multifactorial Essential hypertension, cleftlip, cleft
disorder palate, diabetes, mental retardation

Chromosomal Downs syndrome, turner syndrome,

disorders klinefelter syndrome.
Ayurvedic view
I. According to आचार्य चरक
Genetic characteristics are transmitted by
1 बीज - शुक्र शोणित
2 बीजभाग - chromosome
3 बीजभाग अवायव - gene
• Genetic disorders are pathology occurring in these
factors
a. Ex: visitation of मातृज बीजभाग
Vitiation of Result in
बीज वंध्यत्व
बीजभाग पूतिप्रज
बीजभाग अवायव वार्त
b. Vitiation of Paternal बीज
Vitiation of Result in
बीज वंध्यत्व
बीजभाग पूतिप्रज
बीजभाग अवायव तृणपुत्रिका

I. According to Acārya Suśruta

तत्र, आदिबलप्रवृत्ता ये शुक्रशोणितदोषान्वयाः
कुष्ठार्शः प्रभृतयः, तेऽपि द्विविधाः-मातृजाः
पितृजाश्च।
(सु.सू. 24/5)
Acārya while describing the Vyādhi bheda, explained that the Ādibala
pravṛtta vyadhi, which are congenital in origin and genetically determined
are caused by the vitiation of Sukra and Sonita . This is of two types, Mātījā
(mother) and Pitrja (father).
Ex. Kustha, Arsas etc.
• शुक्रशोणितजीवसंयोग तु खलु कुक्षिगते गर्भसंज्ञा भवति। (च.शा. 4/5)

• The Union of Sperm, Ovum and Soul in the womb is termed as Garbha (Embryo). To
achieve a healthy progeny with optimum strength, complexion, mental faculties and
compactness leading to comfortable and timely delivery, Şadgarbhakarabhāvas
(Combination of the six factors) plays a prime role which are derived from Matrja
(mother). Pitra (father), Atman (soul), Satmya (suitability), Rasa (nutrition) and Sattva
(mind).

• Amongst these, factors like Matrjā (mother), Pitrja (father) as well as Ātman (soul)
cannot be changed because it occurs as a result of the code of conduct followed in the
previous birth (Pūrvajanma samskārās). But the other three factors, namely, Sātmyaja.
Rasaja and Sattvaja bhāvas, if performed properly, it can modify the intrauterine
environment and psychosomatic health of the mother, to produce a healthy foetus.

• To conclude that the genetic disorders are not due to any defect in the mother or the
father but in the ovum or sperm of the parents, So before planning to have a child,
parents should follow Rasayana and Vājīkaraņa karma after Śodhana karma
(purificatory therapy), in order to prevent the genetic disorders.