Ectodermal Dysplasia

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 Ectodermal Dysplasia

1. The epidermal layer is classified into five different skin strata. These layers are

stratum basale, the deepest layer of the epidermis, stratus spinosum, stratum

granulosum, stratum lucidum, and stratum corneum. The stratum corneum is the

uppermost layer of the epidermis (Yousef et al., 2022).

Stratum basale

Stratum basale is the deepest layer of the epidermis that lays and separates from

the dermis by a basement membrane referred to as basal lamina. This layer contains

melanocytes, and columnar and cuboidal cells are typical in this layer. These active

mitotic cells constantly secret keratinocytes (Yousef et al., 2022).

Stratum spinosum

This layer lies above the stratum basale and contains irregular and polyhedral

cells. The layer contains dendritic cells for temperature end pressure reception and

regulation. Stratum spinosum contains 8-1-cell layers.

Stratum granulosum.

The cells in this layer are diamond-shaped. Primary cell types contained in this

layer contain keratohyalin granules and lamellar granules. These granules are essential

for bonding cells in the stratum granulosum. Keratohyalin cells contain precursors of

keratin that facilitate bonding and form cell bundles. On the other hand, lamellar granules

contain glycolipids that glue cells together when secreted to the surface. This layer

usually comprises 3-5 cell layers (Yousef et al., 2022).

Stratum lucidum
 This layer is present in a thick skin found in the palms of the hand and soles of the

feet. This layer is explicit and contains eleidin. Eleidin is a transformation product of

Keratohyalin. The payer is composed of 2-3 cell layers (Yousef et al., 2022).

Stratum corneum

This layer is the uppermost layer of the skin that is made up of dead cells that

protect the cells which are mitotically active and lie beneath this layer. Stratum corneum

is a 20-30 cell layer that contains horny scales and is mainly composed of dead keratin

cells. The thickness of this layer varies from site to site depending on the exposure to

harsh environmental conditions. Defensins are primary secretions of this layer that

provide primary immune defence against pathogenic microorganisms.

2.

Cell junctions fall into four major types in both animals and plants. These are

plasmodesmata, tight junctions, gap junctions, and desmosomes.

Gap Junctions

A gap junction is a functional junction that allows channels between neighbouring

cells to facilitate the flow of water, ions and other substances. Gap junctions in human

beings and other vertebrates develop then the six-cell membranes called connexins alight

to form significantly elongated structure connexins. Connexins form channels where

material pass when adjacent cells align.

Tight junctions

Tight junctions are formed when adjacent cells are held tightly against each other.

Tight junctions create a watertight seal that prevents water from escaping the cells.

Claudins are proteins used to anchor tight junctions to prevent seepage. Cells are
arranged in groups to form tighter junctions in extended branching networks that

facilitate tighter seals. Tight junctions are essential for keeping liquid from escaping

between cells for application in membranes lining major organs, for example, in

epithelial cells that line the human bladder. These tight junctions line cells in the

membrane, forming an impermeable membrane that prevents urine from leaking into the

extracellular space.

Desmosomes.

Desmosomes are cell junctions that facilitate firm anchorage between cells.

Desmosomes contain cadherins, proteins specialized for membrane adhesion at the point

where cell membranes meet and interact with the space between the cells. This protein

holds the cells together. When inside the cells, Cadherins attach to cytoplasmic Plawue to

help anchor the cell. Desmosomes junctions are essential because they anchor adjacent

cells to ensure that elastic and stretching organs and tissue, such as skin, remain unbroken

during stretching.

Plasmodesmata

This cell junction is most common in plant cells because plant cells do not

directly contact one another like animal cells. Plant cells have plasmodesmata that

contain holes punched into the cell wall to allow a direct exchange of cytoplasmic

material between two adjacent cells. These plasmodesmata are aligned with the plasma

membrane so that they are continuous.

3.
 Plakophilin gene (PKP2 ) codes for protein Plakophilin 2. This protein is

manufactured in the myocardium cells, which facilitates making Desmosomes structures

that are cell junctions.

1. How would mutations in the Plakophilin gene disrupt cell-to-cell

interactions?

Mutations in this gene would disrupt the coding for manufacturing Plakophilin 2

protein, interfering with cell junctions and associated channels.

4.

Mutation in the Plakophilin gene would lead to hyperhidrosis by interfering with

desmosome formation and arrangement mechanisms. Gene Mutation in Plakophilin

would interfere with forming the Plakophilin 2 protein. Plakophilin 2 protein makes

desmosomes; hence mutation in Plakophilin cells would interfere with desmosome

formation. Such interference will cause interference of material within and between cells

leading to hyperhidrosis. Plakophilin gene mutation would also interfere with the

cadherin protein formation mechanism, affecting normal cell junction functioning. This

type of mutation is likely to lead to a condition known as Ectodermal Dysplasia – skin

fragility syndrome. A review of genetics for new perspectives on the treatment of

immedicable genetic disorders studied ectodermal dysplasia (Schneider, 2022). The study

has proposed numerous molecular therapies for management. However, clinical trials are

still underway to determine the most effective treatment for the condition. The study

concludes that a pivotal clinical trial of fetal therapy could improve the efficiency of the

drug currently used to manage the condition.

 References

Yousef H, Alhad M, Sharma S (2022, November 14). Anatomy, Skin

(Integument), Epidermis. Retrieved from:

https://ncbi.nlm.hih.gov/books/NBK470464/#!po=6.5000

Schneider H., (2022). Ectodermal Dysplasia: New perspectives on the

treatment of so fat immedicable genetic disorders. Frontiers in

Genetics. 13, 1000744.

https://doi.org/10.3389/fgene/2022.1000744