Mutations in lmna encoding atype lamins cause a wide spectrum of human diseases and more than 10 different. Lamins interact with a variety of proteins in the nucleus, including several integral proteins of the inner nuclear membrane. May 07, 20 laminopathies are hereditary diseases that affect mainly the muscle tissue. While far short of being healthy, the sun1, lamin a double mutant mice lived longer and grew larger than the lamin a single mutants. Kieckhaefer and kan cao department of cell biology and molecular genetics, university of maryland, college park, md 20742, usa abstract the a and btype lamins are nuclear intermediate. Skin disease in laminopathyassociated premature aging. Laminopathies, caused by mutations in atype nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. Since the first reports of laminopathies in the late 1990s, increased research efforts. A generic term for any enzymopathy caused by mutations of genes that encode lamins, which form the nuclear lamina. Emerging perspectives on laminopathies giovanna lattanzi,1,2 sara benedetti,3 maria rosaria dapice,4 lorenzo maggi,5 nicola carboni,6 emanuela scarano,7 luisa politano8 1national research council of italy, institute for molecular genetics cnrigm, unit of bologna, 2rizzoli orthopedic institute, laboratory of musculoskeletal cell biology, bologna, 3laboratory of clinical molecular biology.
Scientists have been trying to explain the pathogenesis of laminopathies and find an efficient method for treatment for many years. Nov 11, 2015 patients can be diagnosed as being affected by a cardiolaminopathy as a result of a cardiological workup performed for symptoms of heart failure or for arrhythmic events or can be diagnosed incidentally or during family screening. Review mouse models of laminopathies haoyue zhang, julia e. Laminopathy symptoms symptoms laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal andor cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo or neuropathy, leukodystrophy, and progeria premature aging. Diseases caused by mutations in lmna encoding atype lamins. When you save presentation as a pdf file it freezes the formatting and layout. In a very basic way one can divide management into influencing the abnormal dna gene therapy, influencing the abnormal rna mainly through morpholinos and other small molecules, decreasing the amount of abnormal protein andor increasing the amount of normal protein by farnesylation inhibition. Lower limb imaging of skeletal muscles from patients with laminopathies. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. People can view the slides even if they dont have powerpoint, but they cant make changes to it. Lamin abnormalities laminopathies mutations in lamins can lead to human. Nov 11, 2015 the grouping into laminopathy has also advantages in considering various management strategies. Striated muscles are affected in muscular dystrophies, peripheral nerves are affected in neuropathies, adipose tissue. They include systemic disorders and tissuerestricted diseases.
It does not include upper motor neuron lesions, lower motor neuron lesions, myasthenia gravis which also causes muscle weakness. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Lamins and laminassociated proteins in gastrointestinal health. Laminopathies definition of laminopathies by medical dictionary. Pdf converter is a online webbased document to pdf converter software. The human lmna gene was identified in 1986 but it was. Mutations in lmna encoding atype lamins cause a wide spectrum of human diseases and more than 10 different clinical syndromes have been attributed. The laminopathies are characteristically syndromic and frequently have. Emerydreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb girdle muscular dystrophy type 1b, dilated cardiomyopathy, familial partial lipodystrophy, charcot. Some laminopathies are explained by mainly heart and muscle abnormalities, other mainly by bone, fat, skin, growth and face abnormalities. These diseases include for example emerydreifuss muscular dystrophy, dilated cardiomyopathy, limbgirdle muscular.
This lecture introduces the nucleus and how information is transferred from stable stored information dna converted to an intermediate mrna, rrna, trna of variable stability, exported from the nucleus to the cytoplasm where mrna is then translated into protein. Onset of mixed connective tissue disease can occur anytime from early childhood to elderly adulthood, but the average age of onset is 37 years. Hallermannstreiff syndromehutchinsongilford progeria syndrome icmtlaminopathylmna mandibuloacral dysplasiazmpste24. In the future, it is likely that more laminopathies will be identified as mutations are discovered in other genes encoding laminassociated proteins and perhaps other mutations in. The term laminopathies envelopathies defines a group of human disorders that are associated with mutations in the genes coding for nuclear lamina proteins lmna, lmnb1 and lmnb2, proteins associated with their posttranslational processing e. Nuclear lamins are intermediate filament proteins primarily located at the inner aspect of the inner nuclear membrane. Patients can be diagnosed as being affected by a cardiolaminopathy as a result of a cardiological workup performed for symptoms of heart failure or for arrhythmic events or can be diagnosed incidentally or during family screening. The grouping into laminopathy has also advantages in considering various management strategies. Mixed connective tissue disease has signs and symptoms of a combination of disorders primarily lupus, scleroderma and polymyositis. Genome instability caused by laminopathies renders dna sensitive to damaging agents, causing higher rates of.
Surgical management preoperative care operative procedure postoperative care bone cancer. Lamins are intermediate filament proteins responsible for the molecular scaffolding under the nuclear membrane which attach to the membrane by farnesylation, a process in which hydrophobic lipid molecules are linked to a protein of interest here, lamin ac and lamin b. Misdiagnosis of hgps is frequently made in patients presenting with some of the features of the syndrome, i. One can evaluate all laminopathies for their major manifestations, which are the heart, muscles, nerves, joints, fat tissue, skin, bone, morphology of the face, growth and endocrine functioning. Lamins are intermediate filament proteins responsible for the molecular scaffolding under the nuclear membrane which attach to the membrane by farnesylation, a process in which hydrophobic lipid molecules are linked. Mixed connective tissue disease japan pdf ppt case. The nuclear lamina and nuclear envelope have become focal points of investigation for scientists and clinicians interested in a wide spectrum of human diseases. Save powerpoint presentations as pdf files office support.
Fpld is inherited as an autosomaldominant trait, with about 85% of the cases from 200 affected individuals being associated with a missense. The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes hutchinsongilford progeria syndrome, restrictive dermopathy, and atypical werner syndrome. The italian network for laminopathies is a group of clinical and research centers performing clinical and molecular diagnosis or biomedical research in the field of laminopathies. Lamins are intermediate filament proteins responsible for the molecular scaffolding under the nuclear membrane which attach to the membrane by farnesylation, a process in which hydrophobic lipid molecules are linked to a protein of interest. Based on the affected tissue, we can classify laminopathies into several categories fig.
Electrocardiogram ecg and echocardiogram heart ultrasound to study the heart and blood vessels lung function tests to measure energy consumption and lung capacity skin biopsy surgical removal of a small skin sample to examine cellular changes hearing tests eye examination to evaluate eyesight and structures of the eye meeting with a. Lamins a and c, which are alternatively spliced products of the atype lamin gene lmna, are expressed in differentiated cells, whereas btype lamins, arising. The lamin family of proteins that make up the nuclear lamina, a matrix of protein located next to the inner nuclear membrane. Invision employees share their remote work secrets. Cardiac involvement in laminopathies orphanet journal of. Lmnalinked laminopathies are a group of rare human diseases caused by mutations in lmna or by disrupted posttranslational processing of its largest encoded isoform, prelamin a. However, their effects can be tissue specific to a degree, allowing for categorisation into five groups table 1. Progeria hutchinsongilford progeria syndrome hgps progeria is a term recognized by many physicians as applying to individuals who appear prematurely aged. Laminopathies are rare human degenerative disorders with a wide spectrum of clinical phenotypes, associated with defects in the main protein components of the nuclear envelope, mostly in the lamins. Laminopathies and the long strange trip from basic cell biology. Jun 10, 2007 the nuclear lamina and nuclear envelope have become focal points of investigation for scientists and clinicians interested in a wide spectrum of human diseases. Dna replication and repair are critical processes that ensure the correct genetic material of a biological system is carried on. Jul 06, 2011 myopathies a special and seperate entity with specific features in each disorder making us easy for diagnosis,confirmation by muscle biopsy. Laminopathies are caused by a heterogeneous set of pleiotropic mutations affecting universally expressed genes.
Chapter 52 assessment of the musculoskeletal system bone cancer. Communitybased care home care management health teaching health care resources disorders of the hand dupuytrens contractureslowly progressive contracture of the palmar fascia resulting in flexion of the fourth or fifth digit of the hand. Although the mechanisms remain to be elucidated, an intriguing possibility is that high levels of sun proteins lead to a hyperactive dna damage response. Emerydreifuss muscular dystrophy edmd affects skeletal and cardiac muscles.
Communitybased care home care management health teaching health care resources disorders of the hand dupuytrens contractureslowly progressive contracture of the palmar fascia resulting in. The significant arrhythmia and cardiomyopathy burden of. The most common group are laminopathies of the muscular dystrophy type. Implications des acides gras dans les maladies cardiovasculaires. Click create pdf xps document, then click create pdf xps. Scientists have been trying to explain the pathogenesis of laminopathies and find an efficient. Emerging perspectives on laminopathies giovanna lattanzi,1,2 sara benedetti,3 maria rosaria dapice,4 lorenzo maggi,5 nicola carboni,6 emanuela scarano,7 luisa politano8 1national research council of italy, institute for molecular genetics cnrigm, unit of bologna, 2rizzoli orthopedic institute, laboratory of musculoskeletal cell biology, bologna, 3laboratory of. Emerydreifuss muscular dystrophy is a condition that primarily affects muscles used for movement skeletal muscles and the heart cardiac muscle. Nov 11, 2015 one can evaluate all laminopathies for their major manifestations, which are the heart, muscles, nerves, joints, fat tissue, skin, bone, morphology of the face, growth and endocrine functioning. Lamins are the major components of the nuclear lamina, a network located between inner nuclear membrane and chromatin, which plays a fundamental role in the organization of the nuclear architecture in all human cells.
Ppt musculoskeletal disorders powerpoint presentation. Dec 27, 2010 laminopathies are rare human degenerative disorders with a wide spectrum of clinical phenotypes, associated with defects in the main protein components of the nuclear envelope, mostly in the lamins. The lower limb uk anatomical society is a registered charity no. In a very basic way one can divide management into influencing the abnormal dna gene therapy, influencing the abnormal rna mainly through morpholinos and other small molecules, decreasing the amount of abnormal protein andor increasing the. Lamins found in several different species were originally grouped into two types based on their isoelectric points. Cardiomyopathy occurs in nearly all cases, with the initial presentation usually being a block in atrioventricular conduction followed by left. Convert and create pdf from various types of files like word doc, excel xls, powerpoint ppt. Electrocardiogram ecg and echocardiogram heart ultrasound to study the heart and blood vessels lung function tests to measure energy consumption and lung capacity skin biopsy surgical removal of a small skin sample to examine cellular changes hearing tests eye examination to evaluate eyesight and structures of the eye meeting with a nutritionist who will track the patients food.
Sep 11, 2012 sun proteins accelerate the pathological progression of laminopathies. Laminopathies are hereditary diseases that affect mainly the muscle tissue. Among the earliest features of this disorder are joint deformities called contractures. Surprisingly, knockout of sun1 reduced the severity of phenotypes associated with the lamin amuscular dystrophy or lamin a. Laminopathies, caused by mutations in atype nuclear lamins, encompass a range of diseases, including forms of progeria and muscular. Lamins a and c, which are alternatively spliced products of the atype lamin gene lmna, are expressed in differentiated cells, whereas btype lamins, arising from two different. Most of these symptoms develop after birth, typically during childhood or adolescence. In the publish as pdf or xps dialog box, choose a location to save the file to. This is a pdf file of an unedited manuscript that has. The laminopathies are a diverse group of conditions caused by mutations in the lmna gene mim150330. Chandan n intern, department of medicine, mims, mandya 2. The accumulation of mutated or immature forms of farnesylated prelamin a, named progerin or prelamin a. Emerydreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb girdle muscular dystrophy type 1b, dilated cardiomyopathy, familial partial.
Laminectomy high impact list of articles ppts journals 21. Cytoskeletal abnormalities free download as powerpoint presentation. Laminopathy definition of laminopathy by medical dictionary. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that. They are included in the more generic term nuclear envelopathies that was coined in 2000 for diseases associated with defects of the nuclear envelope. Powerpoint in pdf umwandeln kostenloses online tool. Lmna encodes the nuclear envelope proteins lamin a and lamin c by utilization of an alternative splice site in exon 10. Dna continually undergoes a process of replication and division and. Over the past 10 years, there has been a rapid pace in the discovery of diseases caused by mutations in genes encoding nuclear lamins and associated nuclear envelope proteins figure 2. Definition myopathies are disorders with structural changes or functional impairment of muscle. Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal andor cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo or neuropathy, leukodystrophy, and progeria premature aging.
Laminopathies definition of laminopathies by medical. Wenn sie eine prasentation als pdf speichern, kann sie unabhangig davon, ob powerpoint installiert ist, angezeigt werden. Full text emerging perspectives on laminopathies chc. Exploring new therapeutic strategies in hutchinson. Embryonic senescence and laminopathies in a progeroid zebrafish. Mutations in nuclear lamins and their associated proteins cause about 20 different diseases that are collectively called laminopathies. Feb 26, 2019 dna replication and repair are critical processes that ensure the correct genetic material of a biological system is carried on. Projeria, hutchinson gilford projeria syndrom authorstream. The resulting laminopathies show remarkable allelic heterogeneity, with mutations resulting in different phenotypes dictated primarily by the site of mutation. Scribd is the worlds largest social reading and publishing site.
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