A SEMINAR REPORT ON

PROTEOBACTERIA
BY
DANIEL ABRAHAM BAMIDELE
20D/57MB/01562

SUPERVISOR- DR M.I BAALE

OUTLINE
 MUTATION
 TYPES OF MUTATION
 MUTATION RELATED DISEASES
 EPIDEMIOLOGY OF MUTATION RELATED DISEASES IN NIGERIA
 CONCLUSION
 RECOMMENDATION
 REFERENCE

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PROTEOBACTERIA

 Proteobacteria
 A major lineage (phyla) of Bacteria
 Includes many of the most commonly encountered bacteria
 Most metabolically diverse of all Bacteria
 Chemolithotrophy, chemoorganotrophy, phototrophy
 Morphologically diverse
 Divided into five classes
 Alpha-, Beta-, Delta-, Gamma-, Epsilon- (Slonczewsk et
al., 2020). 
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TYPES OF MUTATION

 Carl Woese established this grouping in 1987, calling it

informally the "purple bacteria and their relatives". Because of
the great diversity of forms found in this group, it was later
informally named Proteobacteria, after Proteus, a Greek god of
the sea capable of assuming many different shapes (not after the
Proteobacteria genus Proteus) (Oren and Garrity, 2020).  In 2021
the International Committee on Systematics of Prokaryotes
designated the synonym Pseudomonadota (Oren and Garrity,
2021).

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TYPES OF MUTATION

3. A frameshift mutation
 A frameshift mutation is caused by insertion or deletion of a
number of nucleotides that is not evenly divisible by three from a
DNA sequence.
4. Point Mutation
 Point Mutation affect a gene in one or a few nucleotides. (If only
a single nucleotide is affected, they are called point mutations)
(Doolittle and Brunet, 2017)

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MUTATION RELATED DISEASES

1. Autosomal dominant
 Autosomal dominant conditions sometimes have reduced penetrance, which means
although only one mutated copy is needed, not all individuals who inherit that mutation
go on to develop the disease.
 Examples of this type of disorder are Huntington's disease,   neurofibromatosis type 1,
neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer,
hereditary multiple exostoses, tuberous sclerosis, Von Willebrand disease, and acute
intermittent porphyria.
 Birth defects are also called congenital anomalies (Simcikova and Heneberg, 2019).

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MUTATION RELATED DISEASES

2. Autosomal recessive
 Two copies of the gene must be mutated for a person to be affected by an autosomal
recessive disorder.
 An affected person usually has unaffected parents who each carry a single copy of the
mutated gene and are referred to as genetic carriers. Each parent with a defective gene
normally do not have symptoms (Weatherall, 2019).
 Two unaffected people who each carry one copy of the mutated gene have a 25% risk
with each pregnancy of having a child affected by the disorder.
 Examples of this type of disorder are albinism, medium-chain acyl-CoA
dehydrogenase deficiency, cystic fibrosis, sickle cell disease, Tay–Sachs disease,
Niemann–Pick disease, spinal muscular atrophy, and Roberts syndrome

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 MUTATION RELATED DISEASES

3. X-linked dominant
 X-linked dominant disorders are caused by mutations in genes on the X
chromosome.
 Only a few disorders have this inheritance pattern, with a prime example being X-
linked hypophosphatemic rickets (Weatherall, 2019).
 Males and females are both affected in these disorders, with males typically being
more severely affected than females.
 Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti
type 2, and Aicardi syndrome, are usually fatal in males either in utero or shortly
after birth, and are therefore predominantly seen in females (Weatherall, 2019).

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MUTATION RELATED DISEASES

4. Chromosomal disorder
 A chromosomal disorder is a missing, extra, or irregular portion
of chromosomal DNA.
 It can be from an atypical number of chromosomes or a structural
abnormality in one or more chromosomes.
 An example of these disorders is trisomy 21 (Down syndrome),
in which there is an extra copy of chromosome 21 (Weatherall,
2019).

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EPIDEMIOLOGY OF MUTATION RELATED
DISEASES IN NIGERIA
 Sickle cell disease (SCD) is probably the single most common severe genetic disorder
in Nigeria, occurring in up to 2%–3% of newborns. Sickle cell trait affects up to a
quarter of the population and surveys starting from the 1950s show a stable prevalence
of 22%–25% for the trait (Ekwochi et al., 2017).
 Given Nigeria’s population of ~180 million, Nigeria probably has the largest population
anywhere of people affected by SCD or at risk of having children with SCD.
 Another common monogenic disorder is glucose-6-phosphate dehydrogenase (G6PD)
deficiency.
 The form of G6PD deficiency commonly seen in Nigeria is the African type (GdA-)
and it manifests primarily as increased risk of neonatal jaundice and drug-induced
hemolysis (Ekwochi et al., 2017).

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 CONCLUSION
 Mutation Related Diseases are an important public health issue which needs to be
overcome.
 To address Mutation Related Diseases -associated challenges, a drive toward
universal health coverage to fulfill Mutation Related Diseases patients’ needs is
required along with investment of public and government (national or
international) funding in fundamental biomedical research for understanding the
disease etiology, discovery of novel diagnostic biomarkers and therapeutic targets,
and development of personalized intervention strategies for individual Mutation
Related Disease patients.
 In promoting Mutation Related Diseases, significant progress has been made
across the globe in recent years and many opportunities have been developed to
build on the successful programs, projects and collaborations.
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RECOMMENDATION
 Although the main source of information on Mutation Related Diseases
support and research groups for the patients and their families remains
the internet, yet national RDs support websites are still needed in many
countries.

 To address the clinical challenges associated with Mutation Related

Diseases, it becomes imperative that different sources of clinical
information and the clinical infrastructure should be updated regularly.

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REFERENCES

 Doolittle, W.F. and Brunet, T.D. (2017). "On causal roles and selected effects: our genome is mostly junk". BMC Biology. 15 (1):
116.
 Ekwochi, U., Asinobi, I. N., Osuorah, D. C. I., Ndu, I. K., Ifediora, C., Amadi, O. F. F. and Sunday Mba, G. (2017). Pattern of
congenital anomalies in newborn: A 4-year surveillance of newborns delivered in a tertiary healthcare facility in the south-east
Nigeria. Journal of Tropical Pediatrics 76:345-897
 Monroe, J. Grey; Srikant, Thanvi; Carbonell-Bejerano, Pablo; Becker, Claude; Lensink, Mariele; Exposito-Alonso, Moises; Klein,
Marie; Hildebrandt, Julia; Neumann, Manuela; Kliebenstein, Daniel; Weng, Mao-Lun; Imbert, Eric; Ågren, Jon; Rutter, Matthew
T.; Fenster, Charles B.; and Weigel, D. (2022). "Mutation bias reflects natural selection in Arabidopsis thaliana". Nature. 602
(7895): 101–105.
 Simcikova, D. and Heneberg, P. (2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the
manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577.
 Sfeir, A. and Symington, L.S. (2018). "Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated
Pathway?". Trends in Biochemical Sciences. 40 (11): 701–714.
 Weatherall, D. J. (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9e ed.). McGraw Hill
Professional. p. 725. ISBN 9780071833011.

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 THANK YOU

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