Here is a collection of the different subjects I research, If you would like to read more into my study please use the “Learn more” button.
Research
Some of the topics I study
Molecular Biology
Unlocking the most fundamental secrets of life with Molecular Biology.
Rare Genetic Diseases
Extraordinary and often overlooked rare genetic disorders that intrigue scientists and challenge medical understanding.
Ageing
Musculoskeletal biology research can involve but is not limited to the study of bone, muscles, tendons, ligaments, joints, cartilage, right down to genetic mutations….
Micro Gravity
Spaceflight began in the 1960s and it has been increasing competitively ever since by nations across the globe….
Artificial Intelligence
The theory behind emerging AI technology and the implications of its implementation.
Epigenetics
The epigenetic clock has increasingly become known as a way of determining biological age based on DNA methylation rather than a particular chronological age. Epigenetics examines how external factors change genes expression, DNA methylation is the process of transferring a methyl group onto the C5 position of the cytosine to form 5-methylcytosine (Moore et al., 2013) (..Fig.3), this changes the expression of the gene without altering the genetic code of the organism (Shamsi et al., 2017).
Musculoskeletal Biology
Musculoskeletal biology research can involve but is not limited to the study of bone, muscles, tendons, ligaments, joints, cartilage, right down to genetic mutations….
Psychology
Deciphering the complexities of human behaviour through psychological insights and research.
Bioinformatics & Biostatistics
Deciphering the complexities of human behaviour through psychological insights and research.
Space Exploration & Multi-Planetary Colonisation
An article about space-exploration and the colonisation of other planets.
Collagen
Collagen is the most abundant protein within the human body and is found within various connective tissues. Collagen has a triple helix structure held by amino acids. There are many types of collagen proteins, 28 types have so far been identified. Collagen type I by far is more abundant. Collagen type I can be found in the bone, skin, cardiovascular system, organs, and particularly the musculoskeletal system.
A pro-collagen assembly structure is composed of N- and C-propeptides supporting a triple-helical domain. C-terminal propeptieds function is to collect three α chains during assembly, similar to a zipper effect towards the N-terminus (U. Sharma et al., 2017). The Cterminus facilitates trimerization in the endoplasmic reticulum (ER)(the transportation system during molecular assembly). Propeptides are removed by the enzyme peptidase prior to fibrillogenesis ( the process of fibrils development). However, how propeptieds collect the three α chains is so far unknown(U. Sharma et al., 2017). Figure 1. to illustrate collagen assembly,
There are many unanswered questions regarding its multi-faceted synthesis and assembly pathway during development, or how this may malfunction in ageing. Collagen type I is responsible for bone stability and its structure. Therefore, any defects in this protein can have an incredibly negative impact on a person’s health and lifestyle. Low-quality collagen type I causes the bone to become weak, therefore, vulnerable to fractures. Furthermore, it is unclear as to how collagen mutations causing musculoskeletal diseases such as the brittle bone disease osteogenesis imperfect.
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a genetic disorder that results in the bone becoming brittle, hence why some refer to OI as brittle bone disease. This disorder causes the bone to break or fracture easy. Not only will OI affect the musculoskeletal system it will have a negative impact in many other areas of the body e.g. ocular morphology, loss of hearing, breathing issues, spinal curvature and all with different severity levels. One in 15,000 people is affected by OI, making it a common occurrence in comparison to other diseases. There are four types of OI (Fig, 1), some with mild implications and some very severe. Type I the mildest form and most common, Type II can cause death at birth and is the most severe, Type III has the height bone fracture rate before and after birth. Type IV fluctuates in severity.
OI causation
Most cases of OI are caused by a mutation in the COL1A1 or COL1A2 gene which code for the type I collagen protein. The remaining causes are due to proteins that directly interact with collagen type I. These proteins have been altered due to autosomal recessive mutations changing the genotype which then impacts the interaction.
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