Marfan syndrome for pathophysiology

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Marfan syndrome for pathophysiology

Introduction

Marfan syndrome is a type of genetic disorders which occurred in connective tissues. It is found n gene fibillin 1. It is an inherited transfer disease. It can transfer from parents to children. It can affect all parts of the body. The severe affect of this syndrome occurs to the heart. It can also affect lungs, eyes, spinal cord and aorta.

Etiology and pathogenesis of Mafan syndrome

There are no specific signs, and symptoms of this disease are available. It can be diagnosed after getting proper testing of DNA as it can transfer from one generation to the next. The symptom of this disease can be seen when someone feel's weakness I its skeletal system. The people who have this syndrome are physically weak, they are usually tall in height, and they have long limbs. This disease mostly affects the heart and its components (Murdoch, 1972).

There is no any particular treatment available to cure this syndrome, but it can be manage by giving medications at a very early stage even to children. This syndrome can be prevented by regular check up and by monitoring of heart valves and aorta. The life expectancy can be increased if it is treated properly.

The people who are having this syndrome, they are eventually getting their airspace enlargement which results in rupture of the lungs. Lungs abnormalities can be avoided by taking proper medication and treatment. The dysregulation of TGF (Transforming Growth Factor) in the developing lung results in apoptosis. The elastic fibers can be maintained by taking protein named as Fibrillin 1. It helps in the formation of connective tissues and fibers. The areas which are affected by this syndrome also include eye parts. These elastic fibers are found in all organs of the body; but it has the worst affect on aorta, ciliary zonules of eye and ligaments. A transgenic mouse has been developed which is a copy of a mutant gene found in the human body, and it is responsible for this syndrome, it is also found in human gene. This transgenic mouse reiterates a lot of human disease features and provides various treatments for the pathogenesis of this disease. This disease can also cause in mice by reducing the level of Fibrillin.TGF (Transforming Growth Factor beta) helps in the pathogenesis of this syndrome (Pyeritz & McKusick, 1979).

Clinical manifestation to pathophysiology

It is a disease connected to ...