The Significance of Genetic Analysis in Post-Mortem Essay

This is based on a research which was conducted to determine the value of molecular autopsy in sudden death victims by Sanchez et al. (2016).

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About half of the deaths that occur in Western countries are caused by sudden death. Sudden death is caused by diseases of the heart or an underlying congenital malformation of the heart that are only discovered accidentally during an autopsy. The cause of death in these situations is usually identified by forensic pathologists after carrying out a successful macroscopic autopsy. However, when the macroscopic basis is not apparent, identification of the cause becomes difficult. Some of these cases end up unresolved and categorized as Sudden Unexpected Deaths (SUD). For a medical officer, an unidentified etiology sends a dangerous message; the death might be instigated by a genetic cardiac disease. This means that other family members may be at risk.

Since SUD may be the first presentation of an underlying heart disease in the family, genetic evaluation by molecular autopsy could be crucial. It helps in identification of the cause of death, pointing out carriers of the trait among members of the family and in assumption of effective pre-emptive strategies. In spite of the fact that forensic regulations advocate for molecular autopsy in SUD cases, this is usually not done. It has constrained to projects undertaken during research. There has also been major progress in genetic technologies such as the Next Generation Sequencing (NGS) which allows a large number of genetic sequencing possible. However, only one complete study has been done to validate the vitality of gene analysis in natural death.

Sanchez et al. (2016) conducted an epidemiological investigation of sudden death cases in a correlative cohort of SUD patients who were under pathological investigation for sudden death happening outside the hospital. They wanted to find the cause of demise and see whether genetic analysis would be of any help. They used the NGS technology and Sanger sequencing to ascertain the rare genetic variants detected by NGS among other procedures. They found out that above the age of 30 years, macroscopic autopsy identified the cause of death. Though, in victims below 30, it did not identify. This was because cardiomyopathies are the main cause of death in the young people, and inherited heart conditions in those younger than 10 (Sanchez et al., 2016). The unidentified cases were successfully determined after genetic analysis.

They concluded that although 79 % of deaths can be answered by autopsy examinations, 20% still remain unresolved. Therefore, they advocated for the use of NGS genetic analysis to complement forensic investigations.

Physical Exercise in Hypertension

Hypertension is a long-standing medical disorder in which blood pressure in the arteries is persistently high beyond the normal range. The elevated force of blood against the arteries does not cause any symptoms but predisposes the patient to other cardiovascular conditions such as Cerebrovascular Accidents (CVA) and Coronary Artery Disease (CAD) (Folkow, 1993). It is managed by using pharmacological agents or advocating for changes in the lives of the patients which facilitate the alleviation of the condition. The latter is usually the first approach recommended physicians.

Regular physical exercise makes tremendous change in the management of hypertension as proved by scientists. The heart is made up of cardiac muscle. Just like any other muscle, increased activity during exercise makes it become stronger. Therefore, making it require less effort to pump more blood. The force of the blood entering general circulation from the heart is consequently reduced translating into a lower blood pressure reading at the sphygmomanometer. Specifically, it can lower the systolic reading by 4-9 mmHg when done on a regular basis. Furthermore, exercise helps control weight and reduce stress both of which are complementary to blood pressure management. Consistency is however crucial since blood pressure can rise again upon cessation of exercise.

A research was conducted by Kazuko et al. (2003) in Japan to measure the impact of aerobic exercise on hypertensive patients. It involved 207 patients with essential hypertension who had not received any form of treatment. He divided them into groups based on the time they put into exercise in a day and the frequency in a week. After eight weeks, there was no change in the readings for the people who were not exercising. Conversely, there was substantial decrease in both diastolic and systolic for individuals who had increased the rate of their physical activity. There was however no major difference in diastolic pressures between patients who had a tremendous amount of exercise and those who exercised moderately. It was concluded that fairly moderate increase in physical activity above the deskbound level helps patients achieve clinically significant reduction in blood pressure (Kazuko, 2003).

References

Blumenthal, J. A., Sherwood, A., Gullette, E. C., Babyak, M., Waugh, R., Georgiades, A. & Hayano, J. (2000). Exercise and weight loss reduce blood pressure in men and women with mild hypertension: effects on cardiovascular, metabolic, and hemodynamic functioning. Archives of internal medicine, 160(13), 1947-1958.

Folkow, B. (1993). Early structural changes in hypertension: pathophysiology and clinical consequences. Journal of cardiovascular pharmacology, 22, S1-6.

Kazuko Ishikawa-Takata, Toshiki Ohta, Hirofumi Tanaka. (2003); How much exercise is required to reduce blood pressure in essential hypertensives: a dose-response study: , American Journal of Hypertension.

Sanchez O, Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Mademont I, et al. (2016) Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: The molecular autopsy and a practical approach to surviving relatives. Eur Heart J. 2015;36:1290-1296 pmid:25765769

Rodriguez-Calvo MS, Brion M, Allegue C, Concheiro L, Carracedo A. (2008). Molecular genetics of sudden cardiac death. Forensic Sci Int.