Abstract

Rolf Luft came to appreciate at an early stage of his careerthat biomedicine, cell biology, cell physiology and geneticsarealldevelopingatatremendousrate,andthatitisthereforeof vital importance to retain a sharp focus and to addressone’schosen research questions in great depth. For this,a lotof hard work, talent and enthusiasm are definitely needed.This principle guided Rolf throughout his research careerand became the golden rule for all of his pupils.By applying his own standards Rolf was able to make aremarkable discovery, namely that disturbed function of acell organelle, the mitochondrion, could lead to disease. Helater remarked that he ‘was in the position to undertake thefirst studies of a cell organelle in humans in 1959–1962.They were performed following observations made at thebedside of a patient with striking symptoms never encoun-tered before. The clinical observations led first to an ideaabout the origin of the symptoms and second to studies ofthis particular organelle, the mitochondria’ [1]. This findingemerged from painstaking study of a 30-year-old womanwith profuse perspiration, extremely high energy intake andmyopathy [2]. He hypothesised that these abnormalitieswere due to a derangement of respiratory control in themitochondria. The concept of oxidative phosphorylationwas at that time based on studies of rat liver mitochondria,and he extended these techniques to mitochondria obtainedfrom biopsies of the patient’s gracilis muscles. The studiesshowed the features of ‘loosely-coupled’ respiration, i.e.deficient respiratory control with a partially maintainedability to synthesise ATP. This accounted for all the clinicalfeatures: abnormal heat production leading to increasedperspiration and the enormous energy intake needed tocompensate for the increased combustion. Electron micros-copy of the mitochondria revealed striking structuralabnormalities, with many mitochondria of highly variablesize located in the perinuclear zone of the muscle cells andvast paracrystalline inclusions. Despite the mystery that stillsurrounds the aetiology of Luft’s disease, the demonstrationof human pathology resulting from the biochemical andmorphological abnormalities in mitochondria had a majorimpact on the field of mitochondrial medicine and thecontinuing growth of the field from that time.Rolf Luft can no longer actively guide us in our dailywork. This giant in the fields of diabetes, endocrinologyand mitochondrial diseases died on 22 May 2007. Not onlywill we miss his stunning intellect, but also his generosityand humour. He was born in Stockholm on 29 June 1914.He came from a working-class Jewish family and moneywas scarce, but Rolf was a brilliant student and his studieswere funded by scholarships. He took his MD at the age of26, and 4 years later he submitted a doctoral thesis onCushing’s syndrome and the effects of cortisone. He wenton to play a leading role in establishing endocrinology as adiscipline in Sweden, and also in founding the SwedishEndocrine Society. His appointment to the KarolinskaInstitutet in 1961 represented the first chair of endocrinol-ogy in Europe.

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