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Developing a research agenda in biogerontology: basic mechanisms.
The National Institute on Aging (NIA) began operation in 1975, splitting off from the National Institute of Child Health and Human Development. The first 10 years of NIA's existence were characterized by funding descriptive and discovery research, as the field by then had not come of age. With the isolation of long-lived animal mutants and the application of the tools of molecular biology (including whole-genome sequencing) and transgenic technology to biogerontology research, the situation has changed dramatically since then, and aging-related research has become increasingly mechanistic and respectable. This transition has been aided by research initiatives implemented by NIA staff, and the goal of this article is to describe how NIA develops such research initiatives using research progress made in biogerontology over the past 20 years as the basis for the discussion.
A shared splice site?
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Genetics. Chipping away at the causes of aging.
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Medicine. Mouse study suggests cancer drugs could help prematurely aging kids.
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Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
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Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.
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A recognisable short stature syndrome with premature aging and pigmented naevi.
We report the progress up to the age of seven years of a small for dates baby whose face and neck are strikingly devoid of subcutaneous tissue and who has, in addition, multiple pigmented naevi.
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.
A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome.
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-obstruction are discussed. The two most likely aetiological mechanisms are an X linked single gene disorder or a mitochondrial disorder. The evidence for these possibilities is presented.
Genetic modulation of the senescent phenotype in Homo sapiens.
While it is important to search for unifying mechanisms of aging among a variety of model systems, evolutionary arguments suggest that the pathophysiological details of senescence may be, to some extent, species specific. Moreover, in species that are characterized by extensive genetic heterogeneity, such as our own, one is likely to find kindreds with both "private" and "public" markers of aging. Crude estimates of the number of loci with the potential to modulate aspects of the senescent phenotype of man suggest that thousands of genes could be involved. No single locus appears to modulate all features. Some affect predominantly a single aspect ("unimodal progeroid syndromes"); familial Alzheimer's disease is discussed as a prototype. Linkage studies indicate genetic heterogeneity for autosomal dominant forms of the disease. Some loci affect multiple aspects of the phenotype ("segmental progeroid disorders"); the prototype is Werner's syndrome, an autosomal recessive. Cells from homozygotes behave like mutator strains and undergo accelerated senescence in vitro. Elucidation of the biochemical genetic basis of such abiotrophic disorders may shed light on specific aging processes in man.
Donohue's syndrome--leprechaunism--Cockayne's syndrome. A report of two patients and discussion of the relation between Donohue's Syndrome and Cockayne's Syndrome.
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Relationship between DNA repair capacity and cellular aging.
The experimental evidence is reviewed which bears on the theory that aging in mammalian cells may be related to a decline in the efficiency of normal DNA repair processes. Although the data are as yet fragmentary, they do suggest that there is an age-associated decline in the capacity of cells to perform at least certain types of repair. This is particularly noticeable in human diploid cells as they reach terminal senescence in vitro. Whether this decline is causally related or even contributory to normal aging remains, however, an open question.
T cells, precocious aging, and familial neoplasia.
A 15-year-old girl presented with precocious aging and was found to have low levels of active and total T cells. Family history revealed a high familial incidence of cancer on both the maternal and paternal sides, and activ T cell levels were found to be low in several living family members. The patient developed osteogenic sarcoma 13 months after initial study. Since our previous studies have reported low active and total T cells in patients with cancer, the present results suggest that subjects with low active T cells should be monitored frequently to detect possible neoplasia in it early stages. They also suggest that impaired cellular immunity in humans is associated with, if not the cause of, accelerated aging.