GENETIC INHERITANCE A HOMEOPATHIC PERSPECTIVE

1
(No Transcript)
2

• But in communicating to the world this great
  discovery I am sorry that I must doubt whether my
  contemporaries will comprehend the logical
  sequence of these teachings of mine, and will
  follow them carefully and gain thereby infinite
  benefits for suffering humanity which must
  inevitably spring from a faithful and accurate
  observance of the same. Or whether, frightened
  away by the unheard of nature of many of these
  disclosures, they will not leave them untried and
  uninitiated and therefore, useless.
• Authors preface 1828.

3

• Cuvier classified and reduced animal kingdom in
  four great kingdoms
• Vertebrates Mollusks Articulates and Radiates,
  based upon their general characteristics of
  internal structure
• Facts were accumulated and classification made,
  but they were not arranged according to LAW.

4
Hahnemann according to their respective causes
divided chronic diseases into four classes,
following a fixed principle 1. Drug diseases /
occupational diseases 2. Psora 3. Sycosis 4.
Syphilis
5

• To the last three groups Hahne. gave the term
  MIASMS.
• The word Miasms has become topic of controversy.
• So let us discuss what the word miasm means, why
  did he use such terminology and the sprit behind
  it.

6
Oxford Speaking Dict. Miasm / Miasma- n. a
polluting, oppressive or foreboding atmosphere
an infectious or noxious vapour, specially from
putrescent organic matter, which pollute
atmosphere supposed predisposition to a
particular disease which a person either
inherited or acquired. This latest meaning needs
to be digested and correlated in the light of
different types of chronic diseases.
7
A miasm is an invisible polluting substance which
once gains entrance into the system of a living
human being and overpowers the vital dynamis,
pollutes the man as a whole and leaves behind a
permanent stigma or dyscrasia.
8
Forthcoming informations should make it possible
to determine individual susceptibility hence to
implement individualized prevention ,with an idea
of selecting an appropriate therapy for each
patient.
9
Disease starts from the plane of vital dynamis
and signs / symptoms are reflected on corporeal /
mental plane. Unless treated with proper anti
miasmatic dynamic medicines and completely
eradicated, will persist for whole life and may
be transmitted through generation after
generation.
10

• Holistic concept of treating organism serves to
  reconcile the materialistic and vitalistic
  approach of study.
• With the advent of therapeutic law of cure the
  clinical method of observing the sick and the
  drug action with the philosophic approach of
  studying the patient and drug from holistic point
  of view was only elucidated by Hahnemann

11
Present era can safely be termed as genomic era,
where entire human genome has set researchers in
finding out the genetic components of common
chronic diseases e.g. HT, Diabetes,
Atherosclerosis, various kinds of carcinoma,
autoimmune diseases, dementia and behavioral
disorders.
12

• Field of medical genetics has traditionally
  focused on chromosomal abnormalities and
  Mendelian disorders, with an intention to assess
  the genetic susceptibility to common adult onset
  diseases e.g. diabetes, HT.

13

• Scientists have recognized more than 30,000 genes
  in the human genome, each of it harbors several
  potentially deleterious mutations hence, should
  we as homoeopaths have n number of miasmatic
  classifications or nomenclature
• Let us read seriously what has been written in
  aph 80 by Hanemann.

14

• Present scenario of understanding genetic basis
  of many disorders is incomplete, for example in
  type 2 diabetes mellitus monozygotic twins ranges
  between 50 to 90.

15

• Of late, present medical history or case taking
  gives importance to pedigree history
  recording.
• Let us recall what has been said in aph 83 to 104
  in our organon of medicine.
• Present case history taking suggests to take
  second degree relatives including grand parents
  and should be extended to include additional
  family members.

16

• Our Genetic Identity Every living individual has
  a unique genetic identity 
• This identity is a formed as a combination of the
  genetic signatures of ancestors, and is passed on
  to become part of future generations 
• We are thus intrinsically linked to, and part of,
  our forebears and our descendants

17

• Viewing the Chromosomes 
• Karyotype is a display of chromosomes paired
  according to their size, location of the
  centromere, and staining patterns.
• A karyotype reveals abnormalities in chromosome
  number or structure.
• Humans have 23 pairs of chromosomes 22 pairs of
  autosomes and one pair of sex chromosomes.
• Females are XX and males are XY.  

18

• A mutation is a permanent genetic change.
• GENE- IS A FUNCTIONAL UNIT THAT IS REGULATD BY
  TRANSCRIPTION AND ENCODES A PRODUCT, EITHER RNA
  OR PROTEIN, THAT EXERTA ACTIVITY WITHIN OR
  OUTSIDE THE CELL.
• A change in chromosome structure is a chromosome
  mutation.
• Radiation, organic chemicals, or even viruses may
  cause chromosomes to break, leading to mutations.

19
 
EFFECTS OF GENE MUTATION

• Loss of function
• Dominant negative effect.
• Gain of function.
• Haploinsufficiency.

20
GENETIC DISORDERS

• CHROMOSOMAL
• Alteration of chromosomal number e.g. trisomy 21(
  Downs).
• Alteration of structure e.g. cri du chat syndrome
  (5p deletion).
• Chromosomal deletions e.g. Digeorge syndrome e.g.
  ( deletion of chr 22).

• SINGLE GENE
• Point mutation e.g. sickle cell disease.
• Deletion e.g. cystic fibrosis.
• Duplication e.g. hereditary motor and sensory
  neuropathy.
• Translocation e.g. philadelphia chr in cml.
• Inversion .
• Triplet repeat expansions e.g. Huntingtons
  disease.

21

• Chromosomes can be obtained from a fetus for
  analysis by 
• Amniocentesis        
• Chorionic Villi Sampling (CVS)

22

• Changes in Chromosome Number 
• Nondisjunction occurs during meiosis I when the
  members of a homologous pair both go into the
  same daughter cell or during meiosis II when the
  sister chromatids fail to separate and both
  daughter chromosomes go into the same gamete.
• The result is a trisomy or a monosomy.  

23
Translocation is exchange of chromosomal
segments between two, nonhomologous chromosomes.
Inversion involves a segment of a
chromosome being turned 180 degrees the reverse
sequence of alleles can alter gene activity
24

• Deletions and Duplications 
• Deletions occur when a single break causes a lost
  end piece, or two breaks result in a loss in the
  interior.
• An individual who inherits a normal chromosome
  from one parent and a chromosome with a deletion
  from the other parent no longer has a pair of
  alleles for each trait, and a syndrome can
  result.

Duplication results in a chromosome segment being
repeated in the same chromosome or in a
nonhomologous chromosome, producing extra alleles
for a trait
25
PATTERNS OF INHERITANCE

• AUTOSOMAL DOMINANT
• AUTOSOMAL RECESSIVE
• SEX CHROMOSOME LINKED.
• MITOCHONDRIAL INHERITANCE.
• CODOMINANCE.

26
AUTOSOMAL DOMINANT

• The second copy of the gene on the homologous
  chromosome cannot compensate for the muted copy
• Consecutive generations are affected.
• Half of offspring's are affected males
  females.
• Unaffected individuals cannot transmit disease.
• De novo germline mutation during gametogenesis
  will result in affected offspring without sibling
  being affected in an unaffected parents e.g.
  marfans syndrome.
• Usually manifested in age group 25- 45 yrs.

27
Inheritance patterns
In this example, a man with an autosomal dominant
disorder has two affected children and two
unaffected children.
28
Some AD disorders

• Neurofibromatosis
• Tuberous sclerosis
• Polycysitic kidney disease
• Familial adenomatous polyposis coli
• Familial hypercholesterolaemia.
• Acute intermittent porphyria.
• Familial alzhemiers disease.
• Achondroplasia.

29
AUTOSOMAL RECESSIVE

• The second copy of the gene on the homologous
  chromosome compensates for the mutated copy.
• Unaffected carrier individuals transmit the
  disease.
• If both parents are carriers, then ¼ of their
  offspring are affected, and ½ are carriers.
• Usually present in younger age as most disorders
  are due to enzyme deficiencies.

30
In this example, two unaffected parents each
carry one copy of a gene mutation for an
autosomal recessive disorder. They have one
affected child and three unaffected children, two
of which carry one copy of the gene mutation.
31
SOME AR DISORDERS

• Cystic fibrosis
• Hemochromatosis
• Wilsons disease
• Phenylketonuria.
• Glycogen storage disease e.g. gauchers disease
• Homocysteinuria.
• Xeroderma pigmentosa.
• Congenital adrenal hyperplasia

32
X- LINKED INHERITANCE

• A second copy of gene is present in females.
• Only males are affected.
• Unaffected female carriers transmit.
• ½ of carrier females offspring inherit mutation-
  males are affected, females are carriers.
• Affected males cannot transmit the disease to
  their sons but all of their daughters are
  carriers.
• X-linked diseases are occasionally dominant.

33

• Sex-Linked Traits 
• Traits controlled by genes on the X or Y
  chromosomes are sex-linked although most are
  unrelated to gender.
• An allele on the X chromosome that is in the
  region where the Y chromosome has no alleles will
  express even if recessive it is termed X-linked.
  
• A female would have to have two recessive genes
  to express the trait a male would only need one.
  

34
SOME X-LINKED DISEASES

• Alports syndrome
• Hemophilia A and B.
• Duchenne muscular dystrophy.
• Occular albinism.
• Colour blindness.

35
In this example, a man with an X-linked recessive
condition has two unaffected daughters who each
carry one copy of the gene mutation, and two
unaffected sons who do not have the mutation.
36
In this example, a man with an X-linked dominant
condition has two affected daughters and two
unaffected sons.
37
MITOCHONDRIAL INHERITANCE

• Males and females are equally affected.
• No males transmit disease.
• Variable proportion of offspring from female are
  affected.
• e.g. lebers optic atrophy, MELAS syndrome.

38
In one family, a woman with a mitochondrial
disorder and her unaffected husband have only
affected children. In another family, a man with
a mitochondrial condition and his unaffected wife
have no affected children.
39
The ABO blood group is a major system for
classifying blood types in humans. Blood type AB
is inherited in a codominant pattern. In this
example, a father with blood type A and a mother
with blood type B have four children, each with a
different blood type A, AB, B, and O.
40
Homoeopathic perspective

• Disease morbid symptom syndrome.
• To aim for restore the sick to health if not
  cure.
• Hahnemann and his followers has used the term
  DYSCRASIA.
• Genetic inheritance genetic dyscrasia.
• Dyscrasia can be influenced after birth by
  environment, adaptation, disease producing or
  precipitating agents, besides susceptibility.

41

• Prevention of disease is essential for reducing
  premature death rate and successful treatment of
  so called incurable diseases.
• Susceptibility is governed by many factors- age,
  sex, occupation, diet, mode of living etc.
• Miasmatic aspect.

42
Prevention of chronic diseases

• Married couple must be treated for their chronic
  diseases before they plan conception.
• Children born with latent dyscrasia for severe
  chronic disease e.g. diabetes, hypertension,
  asthma, rheumatoid arthritis, TB, cancer etc. may
  be prevented from these diseases by proper
  constitutional anti miasmatic treatment in early
  childhood

43

• Expectant mothers should be treated throughout
  the period of pregnancy with constitutional anti
  miasmatic medicines
• Potential diabetics may not turn into overt
  diabetic
• Repeated abortion, still birth may be prevented

44

• Proper anti miasmatic treatment of children with
  rheumatic diathesis may prevent development
  rheumatic heart disease
• Constitutional treatment in childhood may also
  prevent development of mental diseases.
• Doses, potency, repetitions will vary according
  to susceptibility.

45
THE END