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PubMed1991

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.

Epidermolysis Bullosa↗
PubMed1993

Inheritance of resistance to oedema disease in the pig: experiments with an Escherichia coli strain expressing fimbriae 107.

Inheritance of resistance to intestinal colonization with E. coli causing oedema disease is hypothesized to be under the control of one locus consisting of two alleles with susceptibility (S) dominating resistance (s). This mode of inheritance was investigated by mating pigs, resistant and susceptible to the disease, and examining the offspring. Weaned piglets were repeatedly inoculated orally with 5 x 10(5) CFU per pig per day of a streptomycin resistant strain of E. coli serotype O139:K12(B):H1:F(107) and susceptibility determined by daily semiquantitative cultural examination of rectal swabs. Using results obtained from offspring, 5 boars were retrospectively assigned the genotype ss, 1 was assigned Ss, and 2 were assigned SS. Nine sows were designated ss, 8 classified Ss and 4 SS. Ninety two pigs resulted from matings regarded as ss x ss; 89 (97%) of these were resistant to colonization and oedema disease. Of the 168 pigs from Ss x ss matings, 83 (49%) were resistant, while only 13 (9%) of 146 pigs from matings with at least one SS parent were classified resistant. The results are compatible with inheritance being controlled by one locus and with susceptibility dominating resistance to oedema disease.

Amoxicillin↗
PubMed1996

Triggered activity as a mechanism for inherited ventricular arrhythmias in German shepherd Dogs.

OBJECTIVES: This study sought to determine whether early afterdepolarization-induced triggered activity is responsible for the initiation of ventricular arrhythmias in dogs with an inherited predisposition to sudden death. BACKGROUND: We have identified a colony of German shepherd dogs that display inherited ventricular ectopic activity and sudden cardiac death. The arrhythmias in these animals are pause dependent but are not associated with a prolonged QT interval, suggesting that they might be initiated by early afterdepolarization-induced triggered activity in Purkinje fibers. METHODS: Cardiac Purkinje fibers obtained from dogs that either did or did not exhibit ventricular tachyarrhythmias at the time of study were superfused in vitro with normal Tyrode solution (extracellular potassium ion concentration 4 mmol/liter) and were studied using standard microelectrode techniques. RESULTS: Early afterdepolarizations and triggered activity occurred spontaneously in Purkinje fibers obtained from affected dogs (n = 7) but not in fibers obtained from unaffected dogs (n = 13). Exit conduction block of triggered responses occurred to varying degrees within the Purkinje fiber but not at the Purkinje-muscle junction. Overdrive pacing suppressed triggered activity. The reemergence of triggered activity after cessation of pacing was both time and rate dependent. Triggered activity in fibers obtained from affected dogs was potentiated by phenylephrine and epinephrine and was suppressed by isoproterenol. Triggered activity was not induced by phenylephrine or epinephrine in fibers obtained from unaffected dogs. CONCLUSIONS: These results support the hypothesis that early afterdepolarization-induced triggered activity in Purkinje fibers is responsible for the initiation of ventricular arrhythmias in this canine model of inherited sudden death.

Adrenergic alpha-Agonists↗
PubMed1991

Organelle inheritance in the yeast cell cycle.

Cell proliferation requires the inheritance of subcellular organelles, yet little is known of the molecular basis of this essential process. Recent microscopy studies of the yeast Saccharomyces cerevisiae have characterized the cellular distribution of mitochondria, vacuoles and elements of the endoplasmic reticulum and Golgi complex. In addition, genetic and microscopical approaches have allowed the isolation and analysis of mutants defective in the inheritance of mitochondria and vacuoles. These investigations are leading to the identification of molecular components mediating the movement of organelles into daughter cells and have revealed that the inheritance of organelles is coordinated with other events of the cell division cycle.

Journal Article↗
PubMed2005

Absence of association of inherited thrombophilia with unexplained third-trimester intrauterine fetal death.

OBJECTIVE: The purpose of this study was to investigate the alleged association between thrombophilia and unexplained third-trimester stillbirth. STUDY DESIGN: Case subjects were 37 women with a history of a third-trimester unexplained stillbirth. Control subjects were 46 volunteers, group-matched for ethnic origin, with no history of stillbirth, recurrent fetal loss, or thromboembolism. The pathology report of 34/37 placentas of case subjects was reviewed. RESULTS: The prevalence of at least 1 inherited thrombophilia among case subjects was 37.8% compared with 41.3% among control subjects. (OR = 0.87; 95%CI, 0.32-2.29). There was no significant difference between the groups with respect to the prevalence of any single inherited thrombophilia. There was, however, a significantly higher prevalence of antiphospholipid antibodies among case subjects compared with control subjects: 47.2% vs 8.7%, respectively (OR = 9.4; 95%CI, 2.5-42.3). No significant difference was noted in the prevalence of thrombopilia among subjects with or without placental infarcts. CONCLUSION: We did not find an association between unexplained third-trimester intrauterine fetal death and inherited thrombophilia; however, we did find such an association with antiphospholipid antibodies.

Antibodies, Antiphospholipid↗
PubMedDate not supplied

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom's most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. As a secondary effect the latter might also cause early onset of puberty. Other secondary effects might be postnatal adaptation problems associated with neurological deficits such as muscular hypotonia due to premature delivery and reduced birthweight and most dysmorphic features as a consequence of subtle skeletal abnormalities and muscular hypotonia. Considering the rarity of traits such as cleft palate, trisomy mosaicism in the fetus is more likely causative than homozygosity of autosomal recessively inherited mutations. Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations.

Abnormalities, Multiple↗
PubMed2004

Inherited pancreatic cancer: improvements in our understanding of genetics and screening.

Inherited pancreatic cancers represent approximately 5-10% of all pancreatic cancers. Pancreatic cancer may be inherited as part of a known cancer syndrome or in association with hereditary pancreatitis or cystic fibrosis. However, most inherited pancreatic cancers do not occur in the context of a known syndrome, and these are referred to as familial pancreatic cancers. Growing evidence suggests the presence of a single autosomal dominant gene in familial pancreatic cancer kindreds, and a susceptibility locus on chromosome 4 has recently been identified in one such family. Pancreatic cancer is believed to arise from pancreatic dysplasia, and familial pancreatic cancer kindreds represent a particularly high-risk population for whom effective screening strategies are needed. One promising strategy has used endoscopic ultrasound to detected pancreatic dysplasia in members of familial pancreatic cancer kindreds.

Family Health↗
PubMed2006

Inherited auditory-cortical dysfunction in twin pairs discordant for schizophrenia.

BACKGROUND: Information on the inheritance of neurophysiological abnormalities might help elucidate the molecular genetic basis of schizophrenia. We used magnetoencephalography (MEG) and electroencephalography (EEG) to investigate the inheritance of auditory-cortical deficiencies in twin pairs discordant for schizophrenia. METHODS: Auditory EEG/MEG responses to frequent standard and occasional deviant tones were measured in mono- and dizygotic (MZ and DZ) twin pairs discordant for schizophrenia and demographically matched healthy twin pairs, recruited from a total population cohort. The MEG/EEG results were regressed against the genetic resemblance to patients with schizophrenia across the patients' unaffected MZ/DZ co-twins and control subjects (with genetic correlations of 1, .5, and 0 to schizophrenia patients, respectively). RESULTS: The EEG responses P50, N100, and mismatch negativity (MMN), as well as the MEG response P50m, were reduced in the schizophrenic patients. P50 and N100 were significantly decreased also in their unaffected co-twins, as compared with the control subjects. Importantly, the P50 and N100 decrease correlated with the unaffected subjects' genetic resemblance to schizophrenia patients. CONCLUSIONS: Our results suggest inherited abnormalities in cortical auditory processing in schizophrenia, reflected by the decreased P50/P50m and N100 amplitudes, whereas the MMN abnormalities might reflect predominantly state-dependent neurodegeneration.

Brain Mapping↗
PubMed2006

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.

Many human inherited neurodegenerative disorders are characterized by loss of balance due to cerebellar Purkinje cell (PC) degeneration. Although the disease-causing mutations have been identified for a number of these disorders, the normal functions of the proteins involved remain, in many cases, unknown. To gain insight into the function of proteins involved in PC degeneration, we developed an interaction network for 54 proteins involved in 23 inherited ataxias and expanded the network by incorporating literature-curated and evolutionarily conserved interactions. We identified 770 mostly novel protein-protein interactions using a stringent yeast two-hybrid screen; of 75 pairs tested, 83% of the interactions were verified in mammalian cells. Many ataxia-causing proteins share interacting partners, a subset of which have been found to modify neurodegeneration in animal models. This interactome thus provides a tool for understanding pathogenic mechanisms common for this class of neurodegenerative disorders and for identifying candidate genes for inherited ataxias.

Animals↗
PubMed2005

Mechanisms of inherited cardiac conduction disease.

Cardiac conduction disease (CCD) is a serious disorder of the heart. The pathophysiological mechanisms underlying CCD are diverse. In the last decade the genes responsible for several inherited cardiac diseases associated with CCD have been identified. If CCD is of an inherited nature (ICCD), its underlying mechanism can be either structural, functional or there can be overlap between these two mechanisms. If ICCD is structural in nature, it is often secondary to anatomical or histological abnormalities of the heart. Functional ICCD is frequently found as a "primary electrical disease" of the heart, i.e. resulting from functionally abnormal, or absent proteins encoded by mutated genes, often cardiac ion channel proteins involved in impulse formation. It can thus be hypothesised that patients with inherited structural or functional ICCD suffer from fundamentally different diseases. It is worthwhile to consider this hypothesis, since it could have implications for diagnosis, treatment, prognosis and, possibly, for the patient's relatives. In this review we aim to find evidence for the idea that functional and structural ICCD are fundamentally different diseases and, if so, whether this has diagnostic and clinical consequences.

Electrocardiography↗
PubMed2005

Epigenetic inheritance in Arabidopsis: selective silence.

Eukaryotic organisms have the remarkable ability to inherit states of gene activity without altering the underlying DNA sequence. This epigenetic inheritance can persist over thousands of years, providing an alternative to genetic mutations as a substrate for natural selection. Epigenetic inheritance might be propagated by differences in DNA methylation, post-translational histone modifications, and deposition of histone variants. Mounting evidence also indicates that small interfering RNA (siRNA)-mediated mechanisms play central roles in setting up and maintaining states of gene activity. Much of the epigenetic machinery of many organisms, including Arabidopsis, appears to be directed at silencing viruses and transposable elements, with epigenetic regulation of endogenous genes being mostly derived from such processes.

Arabidopsis↗
PubMed2005

Mitochondrial inheritance in depression, dysmotility and migraine?

BACKGROUND: Several studies have reported a high degree of association of the common conditions of depression, bowel dysmotility and migraine. Mitochondrial dysfunction and mitochondrial DNA (mtDNA) sequence variants have been linked individually to each of these three conditions, providing a plausible hypothesis for the reported association. If this hypothesis is correct, the matrilineal relatives (who all share essentially the same mtDNA sequence) of patients with mitochondrial disease secondary to inherited mtDNA mutations would be expected to have an elevated prevalence of each of these three conditions. METHODS: Families were recruited by an advertisement posted on the United Mitochondrial Disease Foundation website and invited to participate in an on-line questionnaire if at least one member was diagnosed with mitochondrial disease by a physician. Based upon the reported family histories, families were assigned by the investigators to either the probable maternal inheritance (PMI) group (55 families) or the probable non-maternal inheritance (PnMI) group (111 families). RESULTS: Bowel disorders, migraine and depression were reported at very high prevalence in the PMI mothers (60%, 54% and 51%, respectively), but were present at significantly lower prevalence rates among the PnMI mothers (16%, 26% and 12%; P<0.0001 for each) and the fathers of both groups (range 9-16%; P < 2 x 10(-6) for each). Similar data was obtained comparing the prevalence rates among maternal and paternal grandmothers, aunts and uncles. LIMITATIONS: Our data was obtained from families ascertained by the presence of a severely affected individual, and may not be applicable to families lacking this proband. CONCLUSIONS: Depression, bowel dysmotility and migraine are common manifestations in individuals with mtDNA sequence-related mitochondrial dysfunction, which supports our hypothesis that mitochondrial dysfunction is a major common factor underlying the association of these three conditions.

Adolescent↗
PubMed2005

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.

The process of excising introns from pre-mRNA complexes is directed by specific genomic DNA sequences at intron-exon borders known as splice sites. These regions contain well-conserved motifs which allow the splicing process to proceed in a regulated and structured manner. However, as well as conventional splicing, several genes have the inherent capacity to undergo alternative splicing, thus allowing synthesis of multiple gene transcripts, perhaps with different functional properties. Within the human genome, therefore, through alternative splicing, it is possible to generate over 100,000 physiological gene products from the 35,000 or so known genes. Abnormalities in normal or alternative splicing, however, account for about 15% of all inherited single gene disorders, including many with a skin phenotype. These splicing abnormalities may arise through inherited mutations in constitutive splice sites or other critical intronic or exonic regions. This review article examines the process of normal intron-exon splicing, as well as what is known about alternative splicing of human genes. The review then addresses pathological disruption of normal intron-exon splicing that leads to inherited skin diseases, either resulting from mutations in sequences that have a direct influence on splicing or that generate cryptic splice sites. Examples of aberrant splicing, especially for the COL7A1 gene in patients with dystrophic epidermolysis bullosa, are discussed and illustrated. The review also examines a number of recently introduced computational tools that can be used to predict whether genomic DNA sequences changes may affect splice site selection and how robust the influence of such mutations might be on splicing.

Humans↗
PubMed2005

Noncoding DNA and the teem theory of inheritance, emotions and innate behaviour.

The evolutionary function of noncoding 'junk' DNA remains one of the most challenging mysteries of genetics. Here a new model of DNA is proposed to explain this function. The hypothesis asserts the DNA molecule contains not one, but two separate modes of inheritance. In addition to exons that code for proteins and physical traits, it is argued noncoding repetitive elements code for the inheritance of emotions and innate behaviour in metazoans. That is to say, noncoding DNA functions as the medium of a second, hitherto unknown evolutionary process that genetically archives adaptive information, configured as emotions and acquired during the life of an organism, into an inheritable form. This second evolutionary process, here called 'Teemosis', is a selectionist process, but paradoxically, because it does not affect physical traits, it has no maladaptive Lamarckian consequences. The medical implications of the hypothesis are discussed.

Animals↗
PubMed2006

Inherited thrombophilias.

Many inherited thrombophilias have been detected and the pathophysiologic insight has increased tremendously during the last decades. Despite, however, the overwhelming observational evidence on the association between inherited thrombophilia and several women's health issues, including VTE, thus far the implications for clinical practice are uncertain. Although there is firm epidemiologic evidence that is helpful in counseling women who have inherited thrombophilia to prevent a first or recurrent VTE, the uncertainty is particularly present for women who have other pregnancy complications, such as recurrent pregnancy loss and pre-eclampsia. For this group, well-designed placebo-controlled trials to assess the harm-benefit ratio are urgently needed.

Abortion, Habitual↗
PubMed2006

Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia.

Inherited macrothrombocytopenia is a rare illness that is often misdiagnosed as idiopathic thrombocytopenia (ITP), a more widespread acquired disease. Automated blood cell counters in routine clinical use usually miss giant platelets and underestimate mean platelet volume (MPV). Incorrect diagnoses might expose patients to a risk of unnecessary treatment. The ADVIA 120 hematology counter efficiently detects large platelets based on two-dimensional laser light scatter. The present study measures and re-evaluates MPV using the ADVIA 120 in 112 patients who had initially been diagnosed with ITP. We identified 11 unrelated patients as having probable macrothrombocytopenia (average MPV of 19.2+/-3.8 fL; normal range 7.8-10.2). Functional, phenotypical and DNA analyses confirmed that three of these patients had Bernard-Soulier syndrome and one had MYH9-related disease, both of which are the most common forms of inherited macrothrombocytopenia. We stress that a conventional automated hematology analyzer had overlooked giant platelets in these patients, and that all of them had received high-dose steroid therapy and/or splenectomy before this study according to a diagnosis of ITP. Thus, checking MPV using the ADVIA 120 in thrombocytopenic patients is a useful method of correctly diagnosing inherited macrothrombocytopenia, and thus avoiding patient exposure to unnecessary and sometimes toxic treatment.

Adult↗
PubMed2005

Inheritance of varicoceles.

OBJECTIVES: To evaluate the inheritance of varicoceles through examination of first-degree relatives of patients with known varicoceles. METHODS: A total of 44 patients with a known varicocele had available first-degree relatives (n = 62) examined for the presence of a varicocele between October 1997 and November 2003. An additional cohort of 263 men presenting for vasectomy reversal without a history of subfertility or varicocele was used as the control group. Varicocele grade and the presence of bilateral varicoceles were examined as predictive factors for inheritance. RESULTS: Of the 62 first-degree relatives of patients with a known varicocele, 35 (56.5%) had a clinically palpable varicocele on physical examination. This was significantly greater than the 18 (6.8%) of 263 men in the control group (P < 0.0001). Of the first-degree relatives, 20 (74%) of 27 brothers, 13 (41%) of 32 fathers, and 2 (67%) of 3 sons had palpable varicoceles. Neither varicocele grade nor bilaterality was predictive of inheritance in these first-degree relatives. CONCLUSIONS: The increase in varicocele prevalence is significant in the first-degree relatives (particularly brothers) of patients with known varicoceles. Given the detrimental effect of varicoceles on spermatogenesis and steroidogenesis, patients should be counseled about this increased risk in male family members.

Adolescent↗
PubMed1997

Functions of dietitians providing nutrition support to patients with inherited metabolic disorders.

This article examines functions of dietitians who provide nutrition services to patients with inherited metabolic disorders. A survey questionnaire was developed and pilot-tested in a sample of dietitians, revised, and mailed to all dietitians in the United States who treat patients with inherited metabolic disorders. One hundred forty-two usable questionnaires were returned. Descriptive statistics were used to calculate response frequency. The highest academic degree attained by 37% of the dietitians was a bachelor's degree; 58% had earned a master's degree and 5% a doctorate. Dietitians provided nutrition services during diagnosis, critical illness, and long-term care. More than 90% of the dietitians performed these functions: evaluated nutrition status; prepared, implemented, and evaluated the nutritional support plan; revised the nutrition support plan as needed; monitored dietary compliance; coordinated care with other agencies; developed materials and educated parents, caregivers, and patients about the nutrition support plan; and recorded information in the medical record. Without nutrition support, patients with inherited metabolic disorders may become mentally retarded, experience neurologic or metabolic crises, or die.

Dietetics↗