Aging is a physiological process that is in part genetically determined. Some of the signs and symptoms of aging also occur prematurely in Mendelian disorders. Such disorders are excellent sources of information of underlying mechanisms for these components of aging, and studying these may allow detection of pathways that have not yet considered in detail in physiological aging. Here I define the clinical characteristics that constitute aging and propose that at least 40% of aging signs and symptoms should be present before an entity should be tagged as progeroid. A literature search using these characteristics yields 17 entities that fulfill this definition: Hutchinson-Gilford progeria, mandibulo-acral dysplasia, Nestor-Guillermo progeria, Werner syndrome, Cockayne syndrome, cutis laxa progeroid, Penttinen progeroid syndrome, Mandibular underdevelopment, Deafness, Progeroid features, Lipodystrophy, Fontaine progeroid syndrome, SHORT syndrome, Wiedemann-Rautenstrauch syndrome, Mulvihill-Smith syndrome, dyskeratosis congenita, Marfan syndrome lipodystrophy type, Warburg-Cinotti syndrome, Lessel syndrome and Bloom syndrome. The presenting and main characteristics of these entities are indicated briefly. Their pathophysiology is not complete pathophysiology is reviewed but only the pathophysiology of the premature aging characteristics of this series of entities is compared to the known mechanisms ("Hallmarks") of physiological aging as summarized in the review paper by Lopez-Otin and colleagues. Although many causative genes have not been studied fully for all known aging mechanisms the comparison demonstrates that additional mechanisms must play a role to explain the aging characteristic in some of the progeroid entities of the progeroid entities, and possibly also in physiological aging.

Raoul C.M. Hennekam

European Journal of Medical Genetics

欧洲医学遗传学杂志 (EJMG) 是一份同行评审期刊，以英文发表关于人类和医学遗传学以及实验模型遗传学的各个方面的文章。原创临床和实验研究文章、简短的临床报告、评论文章和欢迎就以下主题给编辑写信：• 畸形学和综合征描述• 遗传性疾病的分子遗传学和分子细胞遗传学• 基因组学和下一代测序技术的临床应用• 综合征癌症遗传学• 行为遗传学• 社区遗传学• 胎儿病理学和产前诊断• 遗传咨询。

The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles on various aspects of human and medical genetics, as well as experimental model genetics. We welcome original clinical and experimental research articles, brief clinical reports, and review articles. The journal particularly focuses on the following topics: • Morphology and syndrome descriptions • Molecular genetics and molecular cytogenetics of hereditary diseases • Clinical applications of genomics and next-generation sequencing technologies • Genetic aspects of syndromic cancers • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.

《欧洲医学遗传学杂志》(European Journal of Medical Genetics) 是一本经过同行评审的期刊，主要发表关于人类医学遗传学及实验模型遗传学各个方面的研究文章。我们欢迎原创的临床和实验研究、简短的临床报告以及评论文章。期刊特别关注以下主题：• 畸形学与综合征描述 • 遗传性疾病的分子遗传学与分子细胞遗传学 • 基因组学及下一代测序技术的临床应用 • 综合征癌症遗传学 • 行为遗传学 • 社区遗传学 • 胎儿病理学与产前诊断 • 遗传咨询。

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders

It is proposed that at least 40% of aging signs and symptoms should be present before an entity should be tagged as progeroid and compared to the known mechanisms of physiological aging as summarized in the review paper by Lopez-Otin and colleagues.

Category	Quartile
医学	4
医学, 遗传学	4

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders

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Journal Info

Category	Quartile
GENETICS & HEREDITY	3