Pathogens

Here comes a brief elucidation about pathogens!

        Pathogens are the foreign infectious microbes that make you sick or cause disease. These are microscopic disease-causing agents from outside of our body which can spread from one person to another. Types of pathogens are,

• Virus
• Bacteria
• Parasite
• Fungi

But some of the above are harmless. Examples for beneficial bacteria are soil decomposers and bacteria in digestive system. Pathogens enter our body through nose, ear, mouth, eyes, any cut and any other openings to the body. Pathogens disrupt the normal functioning by using human body as host to replicate and infect others. Our immune system is designed to attack and abolish them. 

Some diseases caused by the pathogens are

• Viral diseases - flu, common cold, hepatitis, AIDS
• Bacterial diseases - Salmonella food poisoning, Strep throat, Tuberculosis
• Fungal diseases - Fungal nail infection, vaginal infections
• Diseases caused by parasites - malaria, intestinal worms

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Enzymes

        Enzymes are the biological catalysts (also called biocatalysts) which accelerate the biological processes in living organisms. Enzyme lowers the activation energy of the reaction, hence speed up the reaction. Enzymes are must for the systematic functioning of biological processes such digestion, respiration, muscle activities, nerve function, excretion and few other metabolic activites. 

Enzymes are proteins which made up of one or more aminoacids. They react with the molecule called substrate and convert the substrate into products. Also, enzymes are highly specific in nature. 

Some examples of enzymes in human body are,

• Lactase - converts lactose into glucose and galactose
• Maltase - breaks down maltose into glucose
• Lactate dehydrogenase - converts lactate into pyruvate
• Rennin - converts milk proteins into peptides
• Protease - breaks down protein into amino acids

The enzymes has also got many industrial applications. Some examples are, 

• Amylase and protease - baking
• Rennin - cheese production
• Cellulase, protease, oxidases, amylase and peroxidase - detergent industry

Read more details about enzymes in the following book.

Enzymes

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What is Factor-V gene mutation?

What is Factor-V?

        Blood clotting is a multi-step process which involves many proteins. Factor V is one of such protein. This protein is also known as labile factor, and which is derived from liver and platelets. Factor-V helps in the conversation of prothrombin to thrombin which is one of the vital steps in the blood clotting cascade. 

Difference between Factor-V and Factor-V Leiden

        Factor-V is one of the proteins involved in blood clotting and Factor-V Leiden is the mutation or gene change which produces in the abnormal blood clots.

Factor-V Leiden

        This is a genetic disorder, and which develops abnormal clots (thrombosis) mostly in legs called deep vein thrombosis (DVT). If this clot moves to lung through bloodstream and blocks the blood flow in lung, this condition is called as pulmonary embolism (PE) which is a lethal condition.

        The clotting activity of Factor-V is controlled by activated protein C (APC), which turn off Factor-V to prevent blood clotting. But APC cannot work with Factor-V Leiden which lead to abnormal blood clotting. Hence, this Factor-V Leiden is also known as APC resistance. Factor-V Leiden mutation results from the G to A transition in 1601 position of nucleotide (c.1601G>A). This transition results in arginine to glutamine substitution (p.Arg534Gln) at amino acid 534 of protein.

Diagnosis of Factor-V Leiden

        If you have a family history of thrombosis or if you are experiencing unnecessary blood clots or to know the inherited risk of having this mutation or if you are having DVT during pregnancy, the doctor suggests getting tested for Factor-V mutation. A simple blood test can be done by polymerase chain reaction to find out the mutation.

Genetics in Factor-V Leiden

        This is an autosomal dominant disorder means one copy of the mutated gene can cause the increased risk of thrombosis. 

• Factor-V Leiden heterozygous condition (GA, one variant) - having one mutated gene inherited from one parent and one normal gene from another parent.
• Factor-V Leiden homozygous condition (AA, two variants) - having two mutated gene inherited from both parents. No normal factor-V gene is present.
• GG, Leiden mutation is absent.

        Heterozygous condition increases the risk of developing abnormal clots whereas having homozygous condition makes the situation worse means higher the chances of producing clots.

References

• Factor V Leiden - Symptoms and causes. (2020, August 1). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/factor-v-leiden/symptoms-causes/syc-20372423#:%7E:text=Factor%20V%20Leiden%20(FAK%2Dtur,Leiden%20never%20develop%20abnormal%20clots.
• Kirshman, M. (2019, November 22). Factor V Leiden Mutation and PT 20210 Mutation. Testing.Com. https://www.testing.com/tests/factor-v-leiden-mutation-and-pt-20210-mutation/.
• Hanna Rennert PhD, Robert A. DeSimone MD, in Transfusion Medicine and Hemostasis (Third Edition), 2019

Hope this information helps you!