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PubMed2004

Gender differences in the relationship between periodontal disease, tooth loss, and atherosclerosis.

BACKGROUND AND PURPOSE: Males carry a disproportionate burden of cardiovascular disease. Because males also bear a higher burden of periodontal disease, we investigated the existence of gender differences in the postulated relationship between periodontal infections, tooth loss, and subclinical atherosclerosis. METHODS: A total of 1710 randomly enrolled participants between the ages of 45 and 75 with no history of myocardial infarction or stroke received a clinical periodontal examination, carotid scan using high-resolution B-mode ultrasound, and extensive measurements for conventional cardiovascular risk factors (age, education, smoking, alcohol, body mass index, diabetes, systolic blood pressure, low-density lipoprotein-cholesterol, high-density lipoprotein-cholesterol, and triglycerides) as well as markers of healthy lifestyle and social network. RESULTS: In both genders, measures of current and long-term periodontitis worsened as tooth loss increased. In males but not females, an approximately 10% difference in carotid artery plaque prevalence was observed between the lowest and highest tertiles of tooth loss (P<0.05) and long-term periodontitis (P=0.05) after multivariate adjustment. Similar patterns were observed for intima-media thickness. The influence of gender on carotid artery plaque prevalence was most evident among the younger age group (<59 years). Between genders, carotid plaque prevalence differed by 10%, 15%, and 25% across increasing levels of tooth loss, and by 5%, 15%, and 25% across increasing levels of long-term periodontitis. CONCLUSIONS: Our data suggest that tooth loss and long-term periodontitis are related to subclinical atherosclerosis in men but not women. Gender variations in cardiovascular morbidity or mortality may be explained partly by the differential contributions of novel risk factors across genders.

Aged↗
PubMed2001

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported in a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co-segregation with the disease phenotype and is thus most likely the disease-causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations.

Adolescent↗
PubMedDate not supplied

[Tooth diseases in the medieval population of Gracanica near Valjevo].

The analyses of the pattern of dental disease in the Late Medieval Serbian population from cemetery excavations in the archaeological site Grachanica were based on the study of tooth wear, ante-mortem tooth loss, caries, hypoplasia, alveolar resorption, abscesses and calculus. The total sample of all available skeletons with almost complete permanent dentition numbers 45 individuals. Dental sample comprises 178 maxillary teeth and 337 mandibular teeth. The presence of dental caries was scored taking into consideration the size of the lesion (four degrees) and its position on the tooth. The degree of tooth wear was graded into one of four categories: atrition of enamel only; atrition involving dentin; atrition up to the level of fissure at the occlusal surface of the molar teeth, and exposure of the pulp chamber. The cystic defects within the alveolar bone were recorded according to their aetiology, size and position. Radiographic study had not been done in order to detect periapical destruction, so the presence of such destruction was recognizable in advanced stages associated with the appearance of fistula penetrating the compact alveolar bone usually at the buccal side. The condition of the alveolar crest resorption, as the evidence of periodontal disease, was graded into three categories, and the distance from the cemento-enamel junction to the alveolar crest was measured. The analysis of dental pathology profile consisted of the two reporting methods: individual count method (prevalence of disease based on the number of individuals affected) and tooth count method (distribution of lesions frequency on tooth type and class). The Grachanica dentition exhibits a dental pathology profile typical of agricultural medieval populations in this region. Tooth wear was the most frequent, affecting 95% of individuals. Dental caries and ante-mortem teeth loss exhibit also high frequency (51% and 69%). Dental pains of low prevalence include abscesses (13%) and enamel hypoplasia (20%). In the material examined, the carious process was responsible for pulp exposure to infection in all cases of abscess formation. The results obtained suggest that food processing technology and nature of diet allowed use of abrasive in the food and that oral hygiene was at the low level. On the other hand, there were not a lot of people who were subjected to stress-induced growth disruptures. The findings reported here contribute to understand how dietary change and life conditions are related to the changing patterns of dental diseases in medieval populations.

History, Medieval↗
PubMed2005

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot-Marie-Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes. Here, we demonstrate that GDAP1 has far greater expression in neurons than in myelinating Schwann cells. We investigated cell localization of GDAP1 in a human neuroblastoma cell line by means of transient overexpression and co-localization with organelle markers in COS-7 cells and by western blot analysis of subcell fractions with anti-GDAP1 polyclonal antibodies. We observed that GDAP1 is localized in mitochondria. We also show that C-terminal transmembrane domains are necessary for the correct localization in mitochondria; however, missense mutations do not change the mitochondrial pattern of the wild-type protein. Our findings suggest that CMT4A disease is in fact a mitochondrial neuropathy mainly involving axons and represents a disease belonging to the new category of mitochondrial disorders caused by mutations in nuclear genes. We postulate that GDAP1 may be related to the maintenance of the mitochondrial network.

Animals↗
PubMed2006

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). It is well known that HMSN VI is an axonal CMT neuropathy with optic atrophy. However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clarified. Therefore, we studied the phenotypic characteristics of CMT patients with MFN2 mutations. Mutations in MFN2 were screened in 62 unrelated axonal CMT neuropathy families. We calculated CMT neuropathy scores (CMTNSs) and functional disability scales (FDSs) to quantify disease severity. Twenty-one patients with the MFN2 mutations were studied by brain MRI. Ten pathogenic mutations were identified in 26 patients from 15 families (24.2%). Six of these mutations had not been reported, and de novo mutations were observed in five families (33.3%). The electrophysiological patterns of affected individuals with the MFN2 mutations were typical of axonal CMT; however, the clinical and electrophysiological characteristics were markedly different in early (<10 years) and late disease-onset (> or =10 years) groups. All patients with an early onset had severe CMTNS (> or =21) and FDS (6 or 7), whereas most patients with late onset had mild CMTNS (< or =10) and FDS (< or =3). We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. In addition, two early onset families with R94W mutations, previously reported for HMSN VI, did not have visual impairment. Interestingly, eight patients had periventricular and subcortical hyperintense lesions by brain MRI. In the late-onset group, three patients had sensorineural hearing loss and two had bilateral extensor plantar responses. We found that MFN2 mutations are the major cause of axonal CMT neuropathy, and that they are associated with variable CNS involvements. Phenotypes were significantly different in the early and late disease-onset groups. Our findings suggest that HMSN VI might be a variant of the early onset severe CMT2A phenotype.

Adolescent↗
PubMed2003

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the neuron. Mutations in the NEFL gene were recently reported as a cause for autosomal dominant Charcot-Marie-Tooth type 2E (CMT2E) linked to chromosome 8p21. In order to investigate the frequency and phenotypic consequences of NEFL mutations, we screened 323 patients with CMT or related peripheral neuropathies. We detected six disease associated missense mutations and one 3-bp in-frame deletion clustered in functionally defined domains of the NEFL protein. Patients have an early onset and often a severe clinical phenotype. Electrophysiological examination shows moderately to severely slowed nerve conduction velocities. We report the first nerve biopsy of a CMT patient with a de novo missense mutation in NEFL, and found an axonal pathology with axonal regeneration clusters and onion bulb formations. Our findings provide further evidence that the clinical variation observed in CMT depends on the gene mutated and the specific type of mutation, and we also suggest that NEFL mutations need to be considered in the molecular evaluation of patients with sporadic or dominantly inherited CMT.

Adolescent↗
PubMed2005

Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model.

Expression profiling was performed on sciatic nerve of normal mice and of transgenic mice overexpressing the peripheral myelin protein 22 kDa (PMP22). These mice represent a model for the hereditary peripheral neuropathy Charcot-Marie Tooth type 1A. Comparison of the profiles reveals that the proteasomal degradation pathway and various signaling mechanisms are up-regulated in the diseased nerve. The down-regulated processes represent cell shape and adhesion as well as cellular activity and metabolism. In addition, we found that the most significantly up-regulated differences could not be mapped on known transcripts and thus might represent not identified transcripts. Our data will be helpful to direct future research aimed at deciphering the molecular pathogenesis of the most prevalent hereditary peripheral neuropathy.

Animals↗
PubMed1999

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication.

BACKGROUND: The aim of the present study was to examine the frequency and the phenotypic manifestations in a French-Canadian population with a chromosome 17p11.2 duplication (Charcot-Marie-Tooth type 1A, CMT-1A). METHODS: Molecular analysis were performed by Southern blot using pVAW409R3a probe. Clinical evaluation was carried out according to the scale defined by the European HMSN Consortium. RESULTS: The frequency of duplication was found to be similar in the adult (70.8%) and pediatric (72.7%) populations. Onset of symptoms occurred before 20 years of age in 85.7% of adult cases and before the age of 5 in 80% of the pediatric cases. The classical CMT syndrome was observed in 77% of the cases and the syndrome was associated with additional features in 15% of cases in the adult population. All the children presented with classical CMT syndrome with no additional features. There was a significant correlation between the disability score and the duration of the disease but no correlation was found between median nerve conduction velocity and the functional handicap, the age at onset or the duration of the disease. In one family, there was a very conspicuous anticipation over five observed generations. CONCLUSION: This study reveals that the age at onset, the clinical and electrophysiological variability as well as the functional disability variations in a French-Canadian population did not differ from those reported in other populations.

Adolescent↗
PubMed1994

Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.

Collectively, the inherited disorders of peripheral nerves represent a common group of neurological diseases and are frequently encountered in the clinical setting. Recent advances in molecular genetics have not only provided improved diagnosis and counselling, but may ultimately lead to specific, rational therapies for the various forms of inherited neuropathy. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17p (CMT1A), chromosome 1q (CMT1B), the X chromosome (CMTX) and to another unknown autosome (CMT1C). CMT1A is most often associated with a tandem 1.5-megabase (Mb) duplication in chromosome 17p11.2-12, or may occasionally result from a point mutation in the peripheral myelin protein 22 (PMP22) gene. CMT1B is associated with point mutations in the myelin protein zero (P0) gene. The molecular defect in CMT1C is unknown. CMTX is associated with defects in the connexin 32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy, also of undetermined cause. One locus for CMT2 has been assigned for chromosome 1p (CMT2A). Dejerine-Sottas disease is a severe, infantile-onset, demyelinating polyneuropathy which may be associated with point mutations in the P0 or PMP22 genes. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and may result from reduced expression of the PMP22 gene. CMT1A and HNPP are apparent reciprocal duplication/deletion syndromes originating from unequal cross-over during germ-cell meiosis.

Charcot-Marie-Tooth Disease↗
PubMed2006

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

The neurofilament light chain (NF-L) is a major constituent of intermediate filaments and plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth (CMT) type 2E (CMT2E) or demyelinating CMT type 1F (CMT1F). The pathophysiological bases of the disorder(s) are elusive. We performed a mutational analysis of NEFL in a series of 177 index cases with CMT and without mutations in the genes for peripheral myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22) and connexin 32 (GJB1); the motor nerve conduction velocity (MNCV) at the median nerve was below 38 m/s in 76 cases and above 38 m/s in 101. We identified five new pedigrees with four mutations in the head and rod domains of NF-L, including a novel Leu268Pro substitution and a novel del322Cys_326Asn deletion. Several examined affected members exhibited marked variability in the severity of disease and age at onset. Nerve conduction alterations were consistent with an axonal neuropathy often associated with demyelinating features, such as prolonged distal latencies (DL). Pathological examination of sural nerve biopsies in the probands detected in four cases a chronic axonal neuropathy dominated by focal accumulations of NF with axonal swellings (giant axons) and significant secondary demyelination; in the fifth case no NFs accumulations were evident but many myelinated fibres consisted exclusively of microtubules with few or absent NF. The pathological phenotype correlated with the pattern of nerve conduction alterations and indicated that NEFL mutations cause a profound alteration of the cytoskeleton possibly related to defective targeting of NF.

Adolescent↗
PubMed1985

Periodontal disease, tooth loss, and oral hygiene among older Americans.

Recent research has suggested that susceptibility to destructive periodontal disease may not be as universal as was previously thought. This report analyzes data from a representative national sample of 11 338 American adults aged 25-74, examined in a national survey in 1971-74. Results showed that 46.1% of those aged 65-74 were edentulous, but half of the dentate persons in that age group were diagnosed as free of destructive periodontal disease. Periodontal (PI) and oral hygiene (OHI-S) index scores in this group were significantly better in those persons who had lost fewest teeth. When persons aged 65-74 who retained 25 or more teeth were compared with younger adults who also had 25 or more teeth, OHI-S and CI scores were similar. It is hypothesized that maintenance of oral hygiene levels corresponding to OHI-S scores of 0.3-0.6, and calculus levels corresponding to CI scores of 0.1-0.2, is sufficient to maintain a dentition free of periodontal disease throughout life. Slightly higher OHI-S levels (0.7-1.3) and CI levels (0.3-0.6) might be compatible with acceptably low levels of periodontal disease.

Adult↗
PubMed1996

[Differential diagnosis of resorptive tooth diseases and caries].

Feline Odontoclastic Resorptive Lesions (FORL, previously known as "neck lesions") on cat teeth are compared to caries and differentiated with the use of new methods. Radiological examination reveals typical odontoclastic resorptive processes, which take place at the dental root and at the periodontium. These lesions demonstrate the destruction on the desmodontium and the following ankylosing reaction. The rhodamine B stain which is selective for caries, stains regions which are softened by caries in a dark red way. Fuchsin/Acetic-Light Green stained histological preparations demonstrate the resorptive lacunae, resorptive lagoons and resorptive canals. Giant cells with multiple nuclei and reparative cementum can also be shown with the same stain. Hardness measurements using a Knoop diamond (KHN Knoop hardness number) give information about the degree of hardness of the different tissues. Electron microscopic investigations are performed to show the dentinal tubules and allowing the differentiation between FORL and caries. Since FORL also has been found in wild cats we deduced that alimentation has no effect on the pathogenesis of the disease.

Animals↗